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TG Gene

protein-coding   GIFtS: 59
GCID: GC08P133879

Thyroglobulin

  See TG-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
thyroglobulin1 2
AITD32 5
TGN2
Tg3
TDH35

External Ids:    HGNC: 117641   Entrez Gene: 70382   Ensembl: ENSG000000428327   OMIM: 1884505   UniProtKB: P012663   

Export aliases for TG gene to outside databases

Previous GC identifers: GC08P132608 GC08P133966 GC08P133550 GC08P133835 GC08P133948 GC08P129197


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TG Gene:
Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a
substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of
thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination,
and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid
dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism.
Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as
Graves disease and Hashimoto thryoiditis. (provided by RefSeq, Nov 2009)

GeneCards Summary for TG Gene:
TG (thyroglobulin) is a protein-coding gene. Diseases associated with TG include goiter, and endemic goiter. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266
Function: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3)

Gene Wiki entry for TG (Thyroglobulin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TG gene promoter:
         COUP-TF1   AP-1   ATF-2   COUP   HNF-4alpha2   Nkx2-5   HNF-4alpha1   COUP-TF   c-Jun   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TG promoter sequence
   Search Chromatin IP Primers for TG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24   Ensembl cytogenetic band:  8q24.22   HGNC cytogenetic band: 8q24

TG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TG gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P133879:  view genomic region     (about GC identifiers)

Start:
133,879,203 bp from pter      End:
134,147,147 bp from pter
Size:
267,945 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: THYG_HUMAN, P01266 (See protein sequence)
Recommended Name: Thyroglobulin precursor  
Size: 2768 amino acids; 304790 Da
Subunit: Homodimer
Secondary accessions: O15274 O43899 Q15593 Q15948 Q9NYR1 Q9NYR2 Q9UMZ0 Q9UNY3
Alternative splicing: 2 isoforms:  P01266-1   P01266-2   

Explore the universe of human proteins at neXtProt for TG: NX_P01266

Explore proteomics data for TG at MOPED

Post-translational modifications: 

  • Sulfated tyrosines are desulfated during iodination1
  • Glycosylation2 at Asn76, Asn198, Asn484, Asn529, Asn748, Asn816, Asn947, Asn1220, Asn1348, Asn1349,
                                 Asn1365, Asn1716, Asn1774, Asn2013, Asn2250, Asn2295, Asn2582, Ser2749
  • Modification sites at PhosphoSitePlus

  • See TG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003226.4  
    ENSEMBL proteins: 
     ENSP00000427871   ENSP00000220616   ENSP00000428628   ENSP00000429605   ENSP00000430523  
     ENSP00000429164   ENSP00000430430   ENSP00000430087   ENSP00000429761   ENSP00000430161  
     ENSP00000367100   ENSP00000441693  

    TG Human Recombinant Protein Products:

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    OriGene Purified Protein for TG
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    OriGene Custom Protein Services for TG
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    Novus Biologicals TG Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TG
    Cloud-Clone Corp. Proteins for TG

     
    Search eBioscience for Proteins for TG 

     
    antibodies-online proteins for TG (24 products) 

     
    Search antibodies-online for peptides for TG

    TG Antibody Products:

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    antibodies-online antibodies for TG (227 products) 

    TG Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TG
    Cloud-Clone Corp. CLIAs for TG
    Search eBioscience for ELISAs for TG 
    antibodies-online kits for TG (48 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011641 Tyr-kin_ephrin_A/B_rcpt-like
     IPR000716 Thyroglobulin_1
     IPR019819 Carboxylesterase_B_CS
     IPR002018 CarbesteraseB
     IPR016324 Thyroglobulin

    Graphical View of Domain Structure for InterPro Entry P01266

    ProtoNet protein and cluster: P01266

    1 Blocks protein domain: IPB000716 Thyroglobulin type-1

    UniProtKB/Swiss-Prot: THYG_HUMAN, P01266
    Similarity: Belongs to the type-B carboxylesterase/lipase family
    Similarity: Contains 11 thyroglobulin type-1 domains


    Find genes that share domains with TG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THYG_HUMAN, P01266
    Function: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3)

         Genatlas biochemistry entry for TG:
    thyroglobulin,precursor of thyroid hormone,involved in storage of iodine and of inactive thyroid hormones

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872NOT receptor activity IRD--
    GO:0005179hormone activity IEA--
    GO:0042043NOT neurexin family protein binding IRD--
         
    Find genes that share ontologies with TG           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tg):
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with TG           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TG

    miRNA
    Products:
        
    miRTarBase miRNAs that target TG:
    hsa-let-7f-5p (MIRT032091)

    Block miRNA regulation of human, mouse, rat TG using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TG:
    hsa-miR-1303
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TG
    Predesigned siRNA for gene silencing in human, mouse, rat TG

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for TG (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TG (NM_001614)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TG
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TG

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TG
    Browse ESI BIO Cell Lines and PureStem Progenitors for TG 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TG

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11466 VA6-13133) for TG 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    THYG_HUMAN, P01266: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum3
    plasma membrane3
    cytoskeleton2
    golgi apparatus2
    lysosome2
    mitochondrion2
    nucleus2
    vacuole2
    cytosol1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005615extracellular space IBA--
    GO:0005887NOT integral component of plasma membrane IRD--
    GO:0009986NOT cell surface IRD--
    GO:0045202NOT synapse IRD--

    Find genes that share ontologies with TG           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TG About    
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Autoimmune thyroid disease0.61
    2Insulin secretion
    Thyroid hormone synthesis0.36
    3Thyroxine (Thyroid Hormone) Production
    Thyroxine (Thyroid Hormone) Production


    Find genes that share SuperPaths with TG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TG
        Thyroxine (Thyroid Hormone) Production


    2 Kegg Pathways  (Kegg details for TG):
        Thyroid hormone synthesis
    Autoimmune thyroid disease

        Pathway & Disease-focused RT2 Profiler PCR Array including TG: 
              Insulin Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for TG (P012663 ENSP000002206164) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA5P110213, ENSP000003241734I2D: score=4 STRING: ENSP00000324173
    ASGR1P073063, ENSP000002692994I2D: score=1 STRING: ENSP00000269299
    CTSDP073393, ENSP000002366714I2D: score=1 STRING: ENSP00000236671
    APCSP027433, ENSP000002550404I2D: score=1 STRING: ENSP00000255040
    CANXP278243, ENSP000002474614I2D: score=1 STRING: ENSP00000247461
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation IBA--
    GO:0007165signal transduction NAS3016640
    GO:0007416NOT synapse assembly IRD--
    GO:0015705iodide transport IEA--
    GO:0030878thyroid gland development IEP15494458

    Find genes that share ontologies with TG           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TG (THYG)

    Selected Novoseek inferred chemical compound relationships for TG gene (see all 98)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iodine 91.3 525 1954313 (7), 9292948 (6), 12713257 (4), 19160311 (4) (see all 99)
    thyroxine 90.9 582 1466156 (7), 10229914 (6), 11694378 (4), 8890722 (4) (see all 99)
    iodide 83.8 155 10537174 (6), 16648292 (4), 19951699 (3), 20364596 (3) (see all 73)
    triiodothyronine 83.3 331 11288978 (4), 11694378 (4), 10822292 (4), 16477365 (3) (see all 99)
    sodium iodide 78.5 31 19050049 (2), 10090312 (1), 17199440 (1), 18430446 (1) (see all 21)
    diiodotyrosine 77.4 15 8900403 (3), 1954313 (1), 8651700 (1), 9717982 (1) (see all 7)
    iodotyrosine 73.2 15 15289438 (2), 1727828 (1), 9737985 (1), 1281126 (1) (see all 9)
    methimazole 69.9 8 14657389 (1), 1794603 (1), 1688155 (1), 8075781 (1) (see all 5)
    thyronine 66.5 6 9434803 (1), 9717982 (1), 9344702 (1), 9419438 (1)
    18f fluorodeoxyglucose 60.9 40 12186505 (4), 19910903 (2), 10452315 (2), 12656659 (2) (see all 19)



    Find genes that share compounds with TG           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TG gene: 
    NM_003235.4  

    Unigene Cluster for TG:

    Thyroglobulin
    Hs.654591  [show with all ESTs]
    Unigene Representative Sequence: NM_003235
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000523901 ENST00000220616(uc003ytw.3 uc010mdw.3) ENST00000520769
    ENST00000523756(uc011ljb.2) ENST00000518097 ENST00000518505 ENST00000519178
    ENST00000518058 ENST00000519543(uc011ljc.2) ENST00000520197 ENST00000520089
    ENST00000519294 ENST00000524151 ENST00000522523 ENST00000522797 ENST00000518108
    ENST00000522996 ENST00000522809
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TG using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TG:
    hsa-miR-1303
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat TG
    Clone
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    OriGene ORF clones in mouse, rat for TG
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TG (NM_001614)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TG
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TG
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TG
      QuantiTect SYBR Green Assays in human, mouse, rat TG
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    Flow Cytometry
    Products:
       

     
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    Additional mRNA sequence: 

    AB209159.1 AK299197.1 AK303666.1 AK303667.1 BC127887.1 BC140933.1 S40807.1 S80793.1 
    X02154.1 X05615.1 

    Selected DOTS entries (see all 80):

    DT.95202433  DT.95177266  DT.95219259  DT.91713338  DT.100826698  DT.100826700  DT.452683  DT.92472293 
    DT.120642240  DT.95333374  DT.120642266  DT.100826697  DT.100826709  DT.100826704  DT.120642467  DT.100826710 
    DT.120642305  DT.120642340  DT.91698313  DT.95333484  DT.100829949  DT.92472287  DT.95333469  DT.95246308 

    Selected AceView cDNA sequences (see all 1041):

    AU141761 AA384674 AU141693 AU142018 AU141921 AU141623 AU141456 AU141850 
    AU141264 AU141642 AA384456 BE168159 AU141713 AU141584 AA385241 AU141981 
    AU141691 AU141975 AA385060 AU142003 AU141892 AU141459 AU141307 AU141980 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TG Expression
    About this image


    TG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thyroid (Endocrine System)
             Thyroid Progenitors
     
     Gut Tube (Gastrointestinal Tract)
             Anterior foregut progenitor cells
     
     Lung (Respiratory System)
             Immature proximal lung cells
     
     Larynx (Respiratory System)
    TG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654591

    UniProtKB/Swiss-Prot: THYG_HUMAN, P01266
    Tissue specificity: Thyroid gland specific

        Pathway & Disease-focused RT2 Profiler PCR Array including TG: 
              Insulin Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TG
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TG

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TG gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tg1 , 5 thyroglobulin1, 5 78.6(n)1
    74.35(a)1
      15 (29.30 cM)5
    218191  NM_009375.21  NP_033401.21 
     666707535 
    chicken
    (Gallus gallus)
    Aves TG1 thyroglobulin 61.3(n)
    55.62(a)
      100857838  XM_003640868.2  XP_003640916.2 
    lizard
    (Anolis carolinensis)
    Reptilia TG6
    thyroglobulin
    53(a)
    1 ↔ 1
    4(662513-807612)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tg1 thyroglobulin 55.55(n)
    48.51(a)
      100492021  XM_002939515.2  XP_002939561.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tg1 thyroglobulin 52.54(n)
    44.44(a)
      567631  XM_689200.5  XP_694292.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Est86
    alpha-Esterase-8
    18(a)
    1 → many
    3R(3335065-3341391)
    worm
    (Caenorhabditis elegans)
    Secernentea Y75B8A.36
    Protein Y75B8A.3 (Y75B8A.3) mRNA, complete cds
    12(a)
    1 ↔ 1
    III(12101745-12106535) WBGene00013540


    ENSEMBL Gene Tree for TG (if available)
    TreeFam Gene Tree for TG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TG gene
    9 SIMAP similar genes for TG using alignment to 13 protein entries:     THYG_HUMAN (see all proteins):
    NLGN2    CES2    CES3    CES5A    NLGN3    DKFZp686F02202
    ACHE    BCHE    CES1P1

    Find genes that share paralogs with TG           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TG (see all 6587)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20767381,2,,4
    C,HThyroid dyshormonogenesis 3 (TDH3)4 --134192929(+) TGATAT/CGTAGC 2 /R /C mis1 ese37Minor allele frequency- C:0.00EA NS NA 644
    rs20767391,2,,4
    CThyroid dyshormonogenesis 3 (TDH3)4 pathogenic1134257890(+) TTGAAT/AGTGAA 2 /S /C mis11Minor allele frequency- A:0.00EA 220
    VAR_0630374
    Thyroid dyshormonogenesis 3 (TDH3)4--see VAR_0630372 R Q mis40--------
    VAR_0630354
    Thyroid dyshormonogenesis 3 (TDH3)4--see VAR_0630352 C Y mis40--------
    VAR_0630364
    Thyroid dyshormonogenesis 3 (TDH3)4--see VAR_0630362 A D mis40--------
    VAR_0630344
    Thyroid dyshormonogenesis 3 (TDH3)4--see VAR_0630342 C Y mis40--------
    VAR_0630384
    Thyroid dyshormonogenesis 3 (TDH3)4--see VAR_0630382 G R mis40--------
    rs1219126481,2
    C,Fpathogenic1134168695(+) GATTCC/TGATGT 2 R * stg12Minor allele frequency- T:0.00NA EU 5871
    rs1219126461,2
    Cpathogenic1134209483(+) AGTATC/TGAGCC 2 R * stg10--------
    rs20695661,2,,4
    Cpathogenic1134304022(+) GAGGCG/ACTTCC 2 /H /R mis1 ese33Minor allele frequency- A:0.00EA NA 20
    rs1378544341,2
    Cpathogenic1134315991(+) TTGGCA/GGGGAC 2 R G mis10--------
    rs2001325431,2
    Cuntested1134258805(+) TATCCC/TTTCGG 2 P syn10--------
    rs22298431,2,,4
    C,F,Hunknown1134174503(+) TGGCAG/TATCTT 2 Q H mis111Minor allele frequency- T:0.00MN NS EA NA EU 6787
    rs1802231,2,,4
    C,F,O,Hother1134174093(+) TACAGG/TCTGAG 2 A S mis1 ese350Minor allele frequency- T:0.35EA NA NS WA CSA EU 12555
    rs8533261,2,,4
    C,F,O,A,Hother1134183815(-) TGGCAC/TGTAGG 2 M V mis1 ese346Minor allele frequency- N:0.00EA NS NA WA CSA EU 11734
    rs20767401,2,,4
    C,F,Hother1134257899(+) AACGAC/TGGTGC 2 R W mis148Minor allele frequency- T:0.36EA NA NS WA CSA EU 12239
    rs360653451,2
    C--129216066(+) AAGTT-/GGGGGG 1 -- int10--------
    rs724098271,2
    C--129249187(+) ATGGAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs39581791,2
    C--129293806(+) AAAAAA/GCCTCT 1 -- int11Minor allele frequency- G:0.00NA 2
    rs38351821,2
    C--129371984(-) gtgtg-/TG    
       
    /TGTG
    CATGC
    1 -- int10--------
    rs3691453901,2
    C--129371985(+) CATGC-/CA    
       
    /CACA
    ACACA
    1 -- int10--------
    rs1130993621,2
    C--129372005(+) CACACACACAT/-
            
    ACACA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs345208481,2
    C--129377415(+) TTTGC-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs1395004821,2
    --129399858(+) GAAAGA/GAAGGA 1 -- int10--------
    rs3767118071,2
    C--129401986(+) AAGAA-/AAAAC 
            
    AGAAA
    1 -- int10--------
    rs591385491,2
    C--129408737(+) AAAAA-/A/AA  
     
    /AAAAAA
    CAACT
    2 -- int1 cds11NA 2
    rs114366401,2
    C--129410913(+) GGCCAG/-TAGAG 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs559778411,2
    C--129425086(+) CTTTT-/CTTTTTTT 1 -- cds10--------
    rs616246891,2
    C--129433526(+) CAGTA-/AAT   
       TGCCA
    CATCC
    1 -- int10--------
    rs113255051,2
    C--133879769(+) TTCTGT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs754152521,2
    C--133889376(+) ATTTT-/ATTTT 
            
    TGAGA
    1 -- int10--------
    rs2003907761,2
    C--133890747(+) CATCT-/CT/TC 
            
    ACTTA
    1 -- int10--------
    rs602299961,2
    C--133900841(+) TGTGT-/GT/TG 
            
    ATGTG
    1 -- int10--------
    rs339103211,2
    C--133902371(+) TTTTTT/-AATTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs2008099901,2
    C--133905540(+) CGTGT-/ACGTGT
            
    GGTGT
    1 -- cds10--------
    rs773471811,2
    C--133928475(+) CATGG-/GGTAATA 1 -- int10--------
    rs715123301,2
    C,F--133929284(+) CCTCCT/CTCCTT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs715123311,2
    C,F--133929288(+) CTTCCT/CTCCTT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs349759861,2
    C--133929633(+) GTATATG/-TGTGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs616937721,2
    C--133929634(+) TGTGT-/GT/TG 
            
    ATACC
    1 -- int11NA 2
    rs3692188471,2
    C--133944369(+) TTTTT-/G/TG  
            
    GGGGG
    1 -- int10--------
    rs356448741,2
    C--133950008(+) GTTTA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs360026321,2
    C--133951291(+) GTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs712990421,2
    C--133951920(-) TTAAAAAAC/-  
            
    AAACA
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs58951651,2
    C--133958283(+) cacacACACA   
       CAC
    /-
    ACACC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs724433021,2
    C--133958283(+) ATGTT-/ACACACA 1 -- int10--------
    rs1459354371,2
    C--133958283(+) ATGTT-/ACACA 
     CACACAC
    ACACA
    1 -- int10--------
    rs1474752021,2
    C--133958283(+) ATGTT-/ACACAC
            
    ACACA
    1 -- int10--------
    rs340473031,2
    C--133958311(+) cacac-/A/ACACA
    C
    /ACACACAC
    cCTAT
    2 -- int1 cds11NA 2
    rs15545401,2
    C,A--133958317(+) cacacC/AcCCTA 1 -- int12Minor allele frequency- A:0.00NA CSA 3
    rs30760901,2
    C--133959883(+) TGCCC-/T/TT  
            
    TTTTT
    1 -- int10--------
    rs58951661,2
    C--133959883(+) TGCCC-/TTTTTTT 1 -- int11Minor allele frequency- TT:0.00NA 2
    rs3745580021,2
    C--133960425(+) TCCGT-/CCCCCC 1 -- int10--------
    rs607949151,2
    C--133960494(+) GTGTGTGTGTG/-
            
    CATGT
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs351059361,2
    C--133966243(+) GATAG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs349496001,2
    C--133970603(+) ATCTG-/TCTA  
            
    TCTAT
    1 -- int10--------
    rs575312551,2
    C--133975916(+) TGTGT-/GTGT  
            
    ATTTG
    1 -- int10--------
    rs615861651,2
    C--133981341(+) ACCCC-/CAGGGC 1 -- int10--------
    rs113351581,2
    C--133982156(+) CTGTC-/AAAAAA 1 -- int1 trp32Minor allele frequency- A:0.25NA 4
    rs569501541,2
    C--133987355(+) GAAGG-/GAGAAA 1 -- int10--------
    rs339515441,2
    C--133989100(+) TGTCTT/-CATCA 1 -- int12Minor allele frequency- -:0.00NA 4
    rs339776081,2
    C,F--133991967(+) TTTTT-/AACTCA 1 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs349041461,2
    C--133998656(+) TATAT-/AT/   
       TA
    /TG
    GTATG
    1 -- int10--------
    rs351616391,2
    C--134000310(+) ACACA-/CACACAC 1 -- int10--------
    rs611068241,2
    C--134002403(+) ATATA-/TA    
       
    /TATA
    ATATA
    1 -- int10--------
    rs358369241,2
    C--134002405(+) ATATA-/AT    
       
    /ATAT
    TATAT
    1 -- int11NA 2
    rs561017151,2
    C--134003161(+) TTTTTT/-AGCAA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs722490181,2
    C--134008786(+) GCCAA-/TTTTTT 1 -- int10--------
    rs70144631,2
    C,F,H--134015133(+) GTAAAC/AGCTTC 1 -- int112Minor allele frequency- A:0.19NS EA NA WA 1420
    rs723779881,2
    C--134016437(+) AAGGC-/TTTAGG 1 -- int10--------
    rs604707351,2
    C--134023646(+) GGGGG-/GTCTCA 1 -- int10--------
    rs1129839631,2
    C--134023646(+) CTGCA-/A/GAGGGG 1 -- int11CSA 2
    rs58951691,2
    C--134030775(+) ACAAGT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs339390131,2
    C--134035555(+) TTTTT-/TGATGG 1 -- int10--------
    rs1135629761,2
    C--134080131(+) AGGAA-/GTA   
       TGTAT
    GGAAG
    1 -- int11Minor allele frequency- GTATGTAT:0.00CSA 2
    rs725393771,2
    C--134091205(+) GGCCA-/GATAGA 1 -- int10--------
    rs126746481,2
    C,H--134124332(+) AGTGGT/CTGTGT 1 -- int12Minor allele frequency- C:0.25NA 4
    rs29790361,2
    C,A,H--134124369(+) AGGAGG/TGGCTG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs29790371,2
    C,A,H--134124376(+) GCTGTG/TCCCAC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs341710481,2
    C--134130565(+) TTTTT-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs593313061,2
    C--134143132(+) CCCAG-/GTGGGG 1 -- int10--------
    rs777654181,2
    C,F--134151052(+) GTTCAC/GGTTGG 1 -- us2k10--------
    rs1853919921,2
    --134151075(+) TTGAAA/GTACCT 1 -- us2k10--------
    rs1801931,2
    C,F,O,A,H--134151104(+) gTGGAC/TCTGAG 1 -- us2k128Minor allele frequency- T:0.41MN NS EA NA WA CSA 2680
    rs1483860121,2
    C--134151163(+) CCAGG-/CATG  
     TGTGGTC
    CCCAA
    1 -- us2k10--------
    rs1801941,2
    C,F,O,A,H--134151269(+) GTTTAC/TATCAG 1 -- us2k1 tfbs332Minor allele frequency- T:0.43NS EA NA WA CSA 2919
    rs768808141,2
    F--134151300(+) TAGCTG/TTTATG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1887392531,2
    --134151373(+) GTGACC/TGCATT 1 -- us2k10--------
    rs37581161,2
    C,F--134151374(-) AAATGC/TGGTCA 1 -- us2k17Minor allele frequency- T:0.20NA CSA WA EA 366
    rs1172776611,2
    F--134151400(+) AAAGAG/AGTAAT 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs1399121701,2
    --134151435(+) ATGGGC/TTCTAA 1 -- us2k10--------
    rs1801951,2
    C,F,A,H--134151465(+) ttaaaG/Agaaat 1 -- us2k1 tfbs317Minor allele frequency- A:0.35NS EA NA WA CSA 785
    rs1453630361,2
    C--134151483(+) AAGAC-/ACAA  
            
    ACACA
    1 -- us2k10--------
    rs799472921,2
    C,F--134151511(+) AGTGAG/CGATAC 1 -- us2k11Minor allele frequency- C:0.08EA 120
    rs789441111,2
    C,F--134151619(+) GAGAAA/GATAAA 1 -- us2k11Minor allele frequency- G:0.08EA 120
    rs1808165371,2
    --134151632(+) TCTGTA/TACTTA 1 -- us2k10--------
    rs1861100241,2
    --134151681(+) GCAGAC/TTAGTA 1 -- us2k10--------
    rs1498216191,2
    --134151726(+) ATACTA/GTTTTA 1 -- us2k10--------
    rs1917921511,2
    --134151754(+) AACACA/GTTTAA 1 -- us2k10--------
    rs585648561,2
    C,F--134151805(+) CGGCAC/AGGCAG 1 -- us2k12Minor allele frequency- A:0.05CSA WA 120
    rs1457966951,2
    --134151815(+) GCTATA/GTCGGC 1 -- us2k10--------
    rs743911661,2
    F--134151822(+) CGGCCC/TCTTTA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1485398911,2
    --134152033(+) TACTTG/TCCATT 1 -- us2k10--------
    rs1841264431,2
    --134152072(+) AAAATC/TAATAA 1 -- us2k10--------
    rs1801961,2
    C,H--134152192(+) TTCCAG/AAGAAG 1 -- us2k1 tfbs3 trp39Minor allele frequency- A:0.00NS EA NA 672
    rs779096461,2
    C,F--134152242(+) TCTCAC/AAGGAA 1 -- us2k11Minor allele frequency- A:0.07EA 120
    rs1801981,2
    H--134152269(+) AAGCCA/TTGTTT 1 -- us2k110Minor allele frequency- T:0.00MN NS EA NA 856
    rs778917451,2
    C,F--134152330(+) CTGCTC/ATCTTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1400407171,2
    C--134152540(+) GAGAA-/AGAAT 
            
    AGAAG
    1 -- us2k10--------
    rs1476702541,2
    --134152669(+) AGAAAA/GAAAGG 1 -- us2k10--------
    rs758364181,2
    C,F--134152707(+) AGAAGG/AAGAAA 1 -- us2k11Minor allele frequency- A:0.08EA 120
    rs1423380171,2
    C--134152966(+) CACTGC/TCTCAC 1 -- us2k10--------
    rs1859536991,2
    C--134152984(+) CTGGGA/GGTGGG 1 -- us2k10--------
    rs1451634191,2
    C,F--134153141(+) GTGTCG/AGCCAA 2 /S syn12Minor allele frequency- A:0.00NA EU 4949
    rs1400303121,2
    C--134153147(+) GCCAAT/CATCTT 2 /N syn12Minor allele frequency- C:0.00NA EU 4897
    rs1905730111,2
    C--134153171(+) GGCCAC/TGGAGC 1 -- int10--------
    rs796079031,2
    C,F--134153238(+) AGGTGC/TGATCT 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1831315581,2
    --134153292(+) TTTTTC/TTCAGA 1 -- int10--------
    rs1170427601,2
    C,F--134153294(+) TTTTTC/TAGATG 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1998574641,2
    --134153294(+) TTTTT-/CAGATG 1 -- int10--------
    rs1802011,2
    H--134153433(+) GCAAAC/ATTTTG 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1115885441,2
    C,F--134153452(+) CTTGGG/ATTTTT 1 -- int11Minor allele frequency- A:0.04WA 118
    rs1146017151,2
    C,F--134153582(+) CCCATA/GTGACT 1 -- int12Minor allele frequency- G:0.10WA EA 238
    rs561809491,2
    C,F--134153589(+) GACTTC/TGGGCA 1 -- int12Minor allele frequency- T:0.10WA 120
    rs788550661,2
    C,F--134153666(+) TGATGC/TGGTTG 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1871261181,2
    --134153875(+) GGGGCA/GGGCGG 1 -- int10--------
    rs1171099421,2
    C,F--134153885(+) GGGAAC/TGTGTA 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1465078751,2
    C--134153958(+) CGCTG-/CCTGAG 1 -- int10--------
    rs1914593371,2
    --134153997(+) TATTGC/TCTGTC 1 -- int10--------
    rs1802021,2
    C,F,A,H--134154053(+) TGTAAA/GAAAGT 1 -- int125Minor allele frequency- G:0.20NS EA NA WA CSA 1430
    rs1802031,2
    C,F,H--134154175(+) CTTCTC/TTGATG 1 -- int119Minor allele frequency- T:0.00MN NS EA NA WA CSA EU 1546
    rs1145430851,2
    C--134154216(+) GGATGC/TCCAGC 2 A V mis11Minor allele frequency- T:0.01EU 130
    rs1144365001,2
    C,F--134154277(+) GACTAC/TGTGCC 2 Y syn14Minor allele frequency- T:0.00NA EU 6184
    rs2011654441,2
    --134154335(+) GAACTA/CTCAAG 1 -- int10--------
    rs2002328451,2
    C--134154338(+) CTCTCA/GAGGTC 1 -- int10--------
    rs1823652911,2
    C--134154349(+) CAAGAG/TGCCAT 1 -- int10--------
    rs773002551,2
    C,F--134154518(+) GACAAT/ACTGAC 1 -- int11Minor allele frequency- A:0.13WA 118
    rs22939981,2
    C,F,H--134154532(+) GTGAAC/ACCCAA 1 -- int15Minor allele frequency- A:0.00NS EA 534
    rs22939991,2
    C,F--134154614(+) CGGCAC/TGTGTG 1 -- int12Minor allele frequency- T:0.07EA 1610
    rs1879574051,2
    --134154678(+) CCCTCC/TTCCAA 1 -- int10--------
    rs1380083231,2
    --134154753(+) CCACCA/GACCCT 1 -- int10--------
    rs1930374981,2
    --134154800(+) GGGTCA/GCTGTC 1 -- int10--------
    rs1494859461,2
    --134154917(+) TCCCTA/GCAGAA 1 -- int10--------
    rs1856324131,2
    --134155000(+) AACTCC/TATTTA 1 -- int10--------
    rs1802041,2
    C,F,O,H--134155085(+) AACCTC/TCCACG 1 -- int131Minor allele frequency- N:0.00EA NA MN NS WA 3312
    rs1162172501,2
    C,F--134155103(+) AGAGAT/CGCTGC 1 -- int12Minor allele frequency- C:0.10WA EA 238
    rs796826951,2
    C,F--134155272(+) GCATAT/CGCTGT 1 -- int12Minor allele frequency- C:0.10WA EA 238
    rs787756201,2
    F--134155312(+) TTATAC/TCTCTG 1 -- int11Minor allele frequency- T:0.05NA 120
    rs1878779841,2
    --134155516(+) GACACG/TTGGTG 1 -- int10--------
    rs2020843011,2
    --134155768(+) TGTGGC/TTTTGG 1 -- int10--------
    rs1410827831,2
    F--134155836(+) AACGAC/TGGCCG 2 D syn11Minor allele frequency- T:0.00NA 4548
    rs1163406331,2
    C,F--134155837(+) ACGACG/AGCCGC 2 /S /G mis14Minor allele frequency- A:0.01NA WA EU 6227
    rs2014141831,2
    C--134155866(+) GCCAAC/TGGCAG 2 N syn10--------
    rs1426988371,2
    C,F--134155867(+) CCAACG/AGCAGT 2 /S /G mis11Minor allele frequency- A:0.00NA 4550
    rs1469428281,2
    C,F--134155873(+) GCAGTG/AAAGTG 2 /K /E mis11Minor allele frequency- A:0.00NA 4548
    rs1379994691,2
    C,F--134155900(+) CAGGAC/TGGCCT 2 R W mis11Minor allele frequency- T:0.00NA 4550
    rs2014096441,2
    C--134155929(+) TGGGGA/GACGTC 1 -- int10--------
    rs22940001,2
    C,F,H--134155959(+) GGACAA/TCTCAC 1 -- int15Minor allele frequency- T:0.01EA NS 1888
    rs1883752731,2
    --134156032(+) CTTCTC/TCTCTG 1 -- int10--------
    rs1150549381,2
    C,F--134156231(+) TCACCC/TGTGGT 1 -- int12Minor allele frequency- T:0.10WA EA 238
    rs1172756111,2
    F--134156421(+) TGACGG/AATTAA 1 -- int11Minor allele frequency- A:0.01EA 120
    rs798573841,2
    C,F--134156467(+) TATGGT/CTGTCA 1 -- int11Minor allele frequency- C:0.08EA 120
    rs1813744161,2
    --134156482(+) GGCACA/GCTGGC 1 -- int10--------
    rs1139985431,2
    F--134156604(+) AACACG/ATGTAA 1 -- int11Minor allele frequency- A:0.04WA 118
    rs1802051,2
    C,F,A,H--134156642(+) aGGGGC/TGATCA 1 -- int125Minor allele frequency- T:0.38NS EA NA WA CSA 2267
    rs1841832731,2
    --134156723(+) AGATGG/TGTTTG 1 -- int10--------
    rs1153838121,2
    C,F--134156752(+) TGTGCC/AGAAGC 1 -- int11Minor allele frequency- A:0.16WA 118
    rs5813991,2
    A--134156806(+) cactcA/Gtggta 1 -- int12Minor allele frequency- G:0.00NA 4
    rs733474691,2
    C,F--134156868(+) AGAGAC/TAGAAG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1385531171,2
    C--134156869(+) GAGATA/GGAAGG 1 -- int10--------
    rs1142509501,2
    F--134156875(+) GAAGGT/GGGAGG 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1802061,2
    C,F,A,H--134156943(+) cactcT/Cgaggg 1 -- int118Minor allele frequency- C:0.43NS EA NA WA CSA 796
    rs1415093711,2
    --134157037(+) GGAGGG/TGACAA 1 -- int10--------
    rs1802071,2
    C,F,A,H--134157056(+) actgtG/AgcaGT 1 -- int118Minor allele frequency- A:0.43NS EA NA WA CSA 797
    rs1461646121,2
    --134157205(+) GTGCTC/TTGGGG 1 -- int10--------
    rs353014331,2
    C,F--134157484(+) GCTACA/GTTAAC 2 I V mis16Minor allele frequency- G:0.00NA EU 6061
    rs1143228471,2
    C,F--134157512(+) CCTCCC/TTCAGT 2 P L mis15Minor allele frequency- T:0.01NA EU 6303
    rs1156779321,2
    --134157544(+) CGCCTG/ATTCAG 2 /I /V mis11Minor allele frequency- A:0.01NA 214
    rs20695461,2,,4
    C,F,H--134157564(+) CAGCAG/TGTCCA 2 Q H mis1 ese311Minor allele frequency- T:0.02EA NS NA 1226
    rs1413069171,2
    C--134157575(+) GTGCTG/AGTGTG 2 /* /W stg11Minor allele frequency- A:0.00NA 4552
    rs1144779621,2
    C,F--134157585(+) GTGGAC/TGCAGA 2 D syn15Minor allele frequency- T:0.01EA NA EU 2083
    rs2006797381,2
    --134157612(+) GGGACC/TCGCCA 2 T syn10--------
    rs1147818691,2
    C,F--134157614(+) GACCCG/ACCAGC 2 /H /R mis12Minor allele frequency- A:0.00WA NA 4758
    rs1415613251,2
    C--134157652(+) ACTGAA/GCGCCT 1 -- int10--------
    rs762668821,2
    C--134157653(+) CTGAGC/TGCCTG 1 -- int12Minor allele frequency- T:0.01EA EU 1283
    rs1895155831,2
    C--134157677(+) GGGGAA/GGGGCT 1 -- int10--------
    rs1508789051,2
    --134157716(+) TTTAGA/GGTTTC 1 -- int10--------
    rs796768421,2
    F--134157746(+) ACCAGG/TCCCTC 1 -- int11Minor allele frequency- T:0.05NA 120
    rs2009541581,2
    C--134157814(+) GTAGAA/CAAGCC 1 -- int10--------
    rs1154539801,2
    C,F--134157826(+) TATTCA/GCTGGC 1 -- int11Minor allele frequency- G:0.13WA 118
    rs1802081,2
    C,F,O,A,H--134157861(+) TTTCAC/TTGAAC 1 -- int140Minor allele frequency- N:0.00MN NS EA NA WA CSA 3603
    rs802435261,2
    F--134157897(+) GAGTCA/GCTGCA 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1810087221,2
    --134158016(+) TAAAGA/CTGAAA 1 -- int10--------
    rs765896481,2
    F--134158029(+) TTCCTA/GTTTCC 1 -- int11Minor allele frequency- G:0.02EA 120
    rs1863688901,2
    C--134158062(+) ACCCCA/GAGCAG 1 -- int10--------
    rs1912139371,2
    C--134158327(+) TGGGAA/GGCCGA 1 -- int10--------
    rs557698341,2
    C,F--134158360(+) GAGATC/TGAGAC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1802091,2
    C,F,H--134158371(-) tagccA/Gggatg 1 -- int17Minor allele frequency- G:0.00NA WA 14
    rs1861081621,2
    C--134158521(+) ATCGCA/GCCACT 1 -- int10--------
    rs78410831,2
    C--134158543(+) tgggcA/Ggcaga 1 -- int10--------
    rs1910733121,2
    C--134158551(+) AGAGCA/GAGACT 1 -- int10--------
    rs802572221,2
    C,F--134158679(+) AAGTCT/CACAAC 1 -- int12Minor allele frequency- C:0.06WA 120
    rs1833357131,2
    --134158718(+) ACTCAC/GTCACT 1 -- int10--------
    rs1881250061,2
    --134158728(+) TGACTC/TACCCG 1 -- int10--------
    rs1909566341,2
    --134158830(+) CGTTTA/CTATGC 1 -- int10--------
    rs1181829281,2
    C,F--134158913(+) CTGTAT/CAGGTT 1 -- int11Minor allele frequency- C:0.08EA 120
    rs1153016671,2
    C,F--134159024(+) GAAACC/TGCCGA 1 -- int11Minor allele frequency- T:0.13WA 118
    rs1476875971,2
    --134159114(+) ACTCAC/TATATA 1 -- int10--------
    rs786236781,2
    C--134159116(+) TCATAT/CATAAG 1 -- int13Minor allele frequency- C:0.02WA EA EU 1507
    rs1143498771,2
    C--134159177(+) ATCGTC/TGTCTT 2 R C mis11Minor allele frequency- T:0.01EU 130
    rs1157933791,2
    C,F--134159178(+) TCGTCG/ATCTTC 2 /H /R mis11Minor allele frequency- A:0.01WA 216
    rs1148758021,2
    C,F--134159206(+) AAGTCA/GCCACC 2 S syn13Minor allele frequency- G:0.00WA NA 4882
    rs1151459371,2
    C,F--134159211(+) ACCACC/ACCAGT 2 /H /P mis12Minor allele frequency- A:0.00WA NA 4764
    rs1479554411,2
    C,F--134159238(+) GTTTAT/CGCCTG 2 /T /M mis11Minor allele frequency- C:0.00NA 4550
    rs1877372431,2
    C--134159304(+) CTACAA/GCAGGT 2 N S mis10--------
    rs800477981,2
    C,F--134159351(+) CCTGAC/TGCAGC 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1802101,2
    C,F,O,A,H--134159395(+) TCATAC/TGTGCA 1 -- int119Minor allele frequency- T:0.34EA NA WA CSA 568
    rs1925259061,2
    --134159396(+) CATATA/GTGCAG 1 -- int10--------
    rs1446344311,2
    --134159463(+) TGCCAC/TGGCGT 1 -- int10--------
    rs794024711,2
    C,F--134159538(+) AATGTA/TAAACA 1 -- int11Minor allele frequency- T:0.08EA 120
    rs169047611,2
    C,F,H--134159563(+) CATATC/TGGCTA 1 -- int18Minor allele frequency- T:0.04NA NS EA 678
    rs1456943901,2
    C--134159607(+) GAAACC/G/TGGGAG 1 -- int10--------
    rs1841687571,2
    --134159618(+) CAAAGC/TGATCA 1 -- int10--------
    rs1802111,2
    C,F,O,A,H--134159630(+) CAAAAG/CGTGGC 1 -- int124Minor allele frequency- C:0.34MN NA EA NS WA CSA 1480
    rs727274031,2
    --134159692(+) ACTGCA/GTTAGA 1 -- int10--------
    rs1417962681,2
    C--134159770(+) GCACA-/GATA  
     ATATAAT
    ATAAT
    1 -- int10--------
    rs1489031171,2
    --134159800(+) TTTTTA/GAAGAA 1 -- int10--------
    rs1887400791,2
    --134159917(+) TGCATA/GGTTAT 1 -- int10--------
    rs1435804111,2
    --134159973(+) GGCAGA/CAGGCC 1 -- int10--------
    rs1802121,2
    C,F,A,H--134160000(+) GTCTGT/CAATCC 1 -- int110Minor allele frequency- C:0.28MN NA WA CSA 199
    rs1925749971,2
    --134160035(+) GCAGAA/TCATGA 1 -- int10--------
    rs1408270851,2
    C--134160202(+) GCAGTA/GAGCCG 1 -- int10--------
    rs1447045541,2
    C--134160253(+) ACTCCA/GTCTCA 1 -- int10--------
    rs1848182311,2
    --134160293(+) GAGGAG/TGCAGA 1 -- int10--------
    rs1897036631,2
    --134160520(+) GTTCAC/TGCAGA 1 -- int10--------
    rs1808780501,2
    --134160569(+) ATGAAC/TACTAG 1 -- int10--------
    rs614294211,2
    C,F--134160591(+) TGATAT/CGAATT 1 -- int12Minor allele frequency- C:0.12WA 120
    rs775787731,2
    C,F--134160687(+) TGTGCC/TAGGAG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs793770111,2
    C,F--134160913(+) CTGCAC/TGCACG 1 -- int11Minor allele frequency- T:0.13WA 118
    rs1838306081,2
    --134161011(+) TGTTGC/TCACAC 1 -- int10--------
    rs1802131,2
    C,F,A,H--134161184(-) CTATGA/GTGTAA 1 -- int127Minor allele frequency- G:0.24NS EA NA WA CSA 2488
    rs760409371,2
    C,F--134161210(+) GCCTCA/GTCTAT 1 -- int11Minor allele frequency- G:0.08EA 120
    rs78207911,2
    C,F,H--134161262(+) CTTCTG/ATAGGT 1 -- int14Minor allele frequency- A:0.00NS EA 408
    rs1150433601,2
    C,F--134161269(+) AGGTAA/GTTCTC 1 -- int11Minor allele frequency- G:0.13WA 118
    rs1169581331,2
    C,F--134161346(+) CAAGTA/GTAAAT 1 -- int11Minor allele frequency- G:0.08EA 120
    rs1173172161,2
    C,F--134161365(+) GCCAGT/CTTTAT 1 -- int11Minor allele frequency- C:0.08EA 120
    rs752684731,2
    C,F--134161379(+) GTACTT/CATTGC 1 -- int11Minor allele frequency- C:0.08EA 120
    rs1416020341,2
    --134161505(+) ACAAAA/TGATTA 1 -- int10--------
    rs1173315021,2
    F--134161652(+) GTCTGG/CAATCA 1 -- int11Minor allele frequency- C:0.02NA 120
    rs1162131951,2
    F--134161655(+) TGGAAT/ACAGTG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs169047621,2
    C,F,H--134161752(+) CAGTCG/AAGTTA 1 -- int117Minor allele frequency- A:0.05NA NS EA 1792
    rs1892826901,2
    --134161781(+) AAGCAG/TTCTTT 1 -- int10--------
    rs1802141,2
    C,F,H--134161872(+) GGTATC/TGAAAG 1 -- int119Minor allele frequency- T:0.00MN NS EA NA WA CSA 983
    rs1165960041,2
    F--134161920(+) CAGCTG/ATAATC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1452704481,2
    --134161936(+) TTTTCC/TGATAC 1 -- int10--------
    rs1140510781,2
    F--134161961(+) GTAGTC/AGCAGG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1378569081,2
    --134162292(+) GACGAC/TGTTGA 1 -- int10--------
    rs1494334791,2
    --134162414(+) GGGGGA/GAGTCA 1 -- int10--------
    rs1448354911,2
    --134162421(+) GTCAAA/GAATGA 1 -- int10--------
    rs1819915551,2
    --134162484(+) AGCCAC/GAAGCT 1 -- int10--------
    rs1143783111,2
    C,F--134162499(+) TTTGGG/AATGTT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1485724231,2
    --134162524(+) TTTTTG/TTGAAA 1 -- int10--------
    rs1127423121,2
    F--134162538(+) AAAATG/AGAGAA 1 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs1859635321,2
    --134162694(+) TAGGTA/CCTTTT 1 -- int10--------
    rs1901875191,2
    --134162718(+) GCTACC/TGCTTA 1 -- int10--------
    rs1818467311,2
    --134162800(+) ACTCAC/TGCCCC 1 -- int10--------
    rs1144758171,2
    C,F--134162870(+) TCATAA/GGTAAA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1439750961,2
    --134162967(+) TTAATA/GACTAA 1 -- int10--------
    rs1865524821,2
    --134163076(+) ATATAA/TGGTAA 1 -- int10--------
    rs1913562251,2
    --134163085(+) AAAGGA/GGCATT 1 -- int10--------
    rs1472895751,2
    --134163191(+) TCAGGC/TGCTCT 1 -- int10--------
    rs1820631831,2
    --134163238(+) ATTTTA/CTTTTT 1 -- int10--------
    rs1850821161,2
    C--134163340(+) CCTGCC/TTCAGC 1 -- int10--------
    rs1408390371,2
    --134163375(+) CATGCA/GCCACC 1 -- int10--------
    rs70009281,2
    C,F,H--134163387(+) cacatG/Agctaa 1 -- int15Minor allele frequency- A:0.00NS EA CSA 408
    rs792361331,2
    C,F--134163528(+) GGCCCG/CCTCTT 1 -- int12Minor allele frequency- C:0.10WA EA 238
    rs770114071,2
    C,F--134163650(+) AGCCCG/AGAGGC 1 -- int11Minor allele frequency- A:0.08WA 118
    rs169047631,2
    C,F,H--134163756(+) TTGGCT/CGTAAT 1 -- int19Minor allele frequency- C:0.08NA NS EA WA 798
    rs169047641,2
    C,F,H--134163899(+) GGGCAT/CACAGA 1 -- int19Minor allele frequency- C:0.08NA NS EA WA 796
    rs169047651,2
    C,F,H--134163948(+) GCTCTG/ATTGGA 1 -- int116Minor allele frequency- A:0.07NA NS EA WA 2144
    rs1144979461,2
    F--134164065(+) GGAATC/AATGAG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1508263431,2
    C--134164215(+) AGTCTA/GAGTTA 1 -- int10--------
    rs20565251,2
    C,F,A--134164217(-) AGTAAC/GTTAGA 1 -- int13Minor allele frequency- G:0.14NA WA 240
    rs1907734631,2
    --134164265(+) TCACAA/GTGTTT 1 -- int10--------
    rs1833261631,2
    --134164290(+) TGGAGA/GGAACT 1 -- int10--------
    rs797757831,2
    C,F--134164306(+) CCTCGG/AGTCCT 1 -- int11Minor allele frequency- A:0.08EA 120
    rs1889084521,2
    --134164342(+) ACAGGG/TGACCA 1 -- int10--------
    rs169047661,2
    C,F,H--134164384(+) CCAGTG/AGTTTC 1 -- int19Minor allele frequency- A:0.07NA NS EA WA 800
    rs1173992581,2
    C,F--134164428(+) TCCAGC/TGCGCT 1 -- int11Minor allele frequency- T:0.07EA 120
    rs24618011,2
    C,F,A,H--134164441(-) ACAGGT/CGTGAG 1 -- int11Minor allele frequency- C:0.12NA 120
    rs24679911,2
    C,F,A,H--134164442(-) TACAGG/ATGTGA 1 -- int11Minor allele frequency- A:0.15NA 120
    rs1930640561,2
    --134164501(+) ATTGAC/GGCTAT 1 -- int10--------
    rs2018512841,2
    --134164587(+) TCCCA-/TCTCTAC 1 -- int10--------
    rs1802151,2
    C,F,A,H--134164645(-) GATCTC/TGGCTC 1 -- int112Minor allele frequency- T:0.00NA WA CSA EA 256
    rs99696451,2
    C,F,H--134164739(+) GTGCTG/CTATTT 1 -- int111Minor allele frequency- C:0.03NS EA NA WA 962
    rs1392481101,2
    --134164934(+) CCATTC/TGTGGC 1 -- int10--------
    rs1419079751,2
    C--134164947(+) TAGAA-/TCCCAC
            
    TCAAA
    1 -- int10--------
    rs169047671,2
    C,F,H--134164950(+) AATCCC/AACTCA 1 -- int17Minor allele frequency- A:0.08NA NS EA 554
    rs1882250551,2
    --134164958(+) TCAAAC/TTCACC 1 -- int10--------
    rs1802161,2
    H--134164979(+) ACATTC/TTTTGG 1 -- int18Minor allele frequency- T:0.00NA MN NS EA 620
    rs1917933121,2
    --134165047(+) GGGTTC/TGGTCT 1 -- int10--------
    rs1836848491,2
    --134165125(+) CAGAAA/CCCCTG 1 -- int10--------
    rs1499690121,2
    --134165160(+) CTGACA/GGTAGC 1 -- int10--------
    rs786253271,2
    --134165294(+) GTGGGA/CACACA 1 -- int10--------
    rs1410488601,2
    C--134165461(+) TGGCTA/GGATGA 1 -- int10--------
    rs781260871,2
    C,F--134165499(+) AATCCC/TAGTTT 1 -- int12Minor allele frequency- T:0.12WA EA 238
    rs1161889371,2
    C,F--134165504(+) CAGTTT/CTCTCA 1 -- int12Minor allele frequency- C:0.12WA EA 238
    rs765528131,2
    C,F--134165539(+) AGTTGT/CGAGAA 1 -- int11Minor allele frequency- C:0.08EA 120
    rs1433973441,2
    C--134165575(+) TTTGGA/TCTGAT 1 -- int10--------
    rs1883498731,2
    --134165615(+) ATGAAC/TAGTAA 1 -- int10--------
    rs799703671,2
    C,F--134165658(+) TATATA/GCAGAA 1 -- int11Minor allele frequency- G:0.05EA 120
    rs1915677901,2
    --134165734(+) CTAGAC/GAGCCC 1 -- int10--------
    rs791940891,2
    C,F--134165743(+) CCAGAA/TGGCAG 1 -- int12Minor allele frequency- T:0.13WA EA 238
    rs1848337601,2
    --134165773(+) CTTACC/TGGGAG 1 -- int10--------
    rs169047681,2
    C,F,H--134165829(+) GTGCGG/AGAAGC 1 -- int116Minor allele frequency- A:0.09NA NS EA WA 2148
    rs783309171,2
    C,F--134165868(+) AAAACA/TCTGGT 1 -- int12Minor allele frequency- T:0.12WA EA 238
    rs1467179621,2
    --134165892(+) GGGCAA/GTTTAT 1 -- int10--------
    rs1905816631,2
    --134165914(+) CCCCCA/GGAGAG 1 -- int10--------
    rs1818175281,2
    --134165989(+) GAGCCA/GGGATG 1 -- int10--------
    rs1868024651,2
    --134165991(+) GCCAGA/GATGTT 1 -- int10--------
    rs1402908071,2
    --134166098(+) CCTCGA/GGCCAG 1 -- int10--------
    rs1896561371,2
    --134166373(+) GTACCA/CCCTTC 1 -- int10--------
    rs1812597901,2
    --134166536(+) ACTTTC/TATTAT 1 -- int10--------
    rs1849340581,2
    --134166555(+) TACCTC/TCCTAT 1 -- int10--------
    rs1896462121,2
    --134166564(+) ATTAGC/TGGCAA 1 -- int10--------
    rs1453057201,2
    --134166659(+) TAATAG/TCATGG 1 -- int10--------
    rs1822859181,2
    --134166712(+) TGTTTG/TGCATA 1 -- int10--------
    rs1479922981,2
    --134166731(+) CATTCA/GAATTA 1 -- int10--------
    rs747429121,2
    F--134166828(+) TTGTAC/TAGTTG 1 -- int10--------
    rs1504918231,2
    --134166838(+) GTAATC/TGCAAT 1 -- int10--------
    rs749606071,2
    C,F--134166975(+) TTACTT/CCTTAA 1 -- int11Minor allele frequency- C:0.08EA 120
    rs1873737821,2
    --134167165(+) GGGCAC/TGAAAA 1 -- int10--------
    rs169047691,2
    C,F,H--134167299(+) CCCAGT/CTGATG 1 -- int18Minor allele frequency- C:0.04NA NS EA 680
    rs1440640651,2
    C--134167364(+) TTTACA/GGAAAG 1 -- int10--------
    rs1920978931,2
    --134167526(+) ATCTCA/CCAAAA 1 -- int10--------
    rs798106571,2
    --134167528(+) CTCCCA/CAAATG 1 -- int10--------
    rs745865721,2
    C,F--134167586(+) AGTCTC/TGAGAG 1 -- int11Minor allele frequency- T:0.18WA 118
    rs1834767921,2
    --134167690(+) ATGCCA/GTAAGT 1 -- int10--------
    rs1392002431,2
    --134167704(+) GAAAAC/TGGCTA 1 -- int10--------
    rs2004484141,2
    --134167712(+) TAATT-/AGTTAG 1 -- int10--------
    rs22940011,2
    C,H--134167713(+) TAATT<