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POU2F2 Gene

protein-coding   GIFtS: 60
GCID: GC19M042592

POU Class 2 Homeobox 2

(Previous names: POU domain class 2, transcription factor 2)
(Previous symbol: OTF2)
  See POU2F2-related disease
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
POU Class 2 Homeobox 21 2     OTF-22 3
OTF21 2 3 5     Oct-22 3
OCT22 3 5     POU Domain Class 2, Transcription Factor 21
Lymphoid-Restricted Immunoglobulin Octamer-Binding Protein NF-A22 3     Homeobox Protein2
Octamer-Binding Protein 22 3     POU Domain, Class 2, Transcription Factor 22
Octamer-Binding Transcription Factor 22 3     

External Ids:    HGNC: 92131   Entrez Gene: 54522   Ensembl: ENSG000000282777   OMIM: 1641765   UniProtKB: P090863   

Export aliases for POU2F2 gene to outside databases

Previous GC identifers: GC19M043234 GC19M042986 GC19M047271 GC19M047286 GC19M039023


(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 POU2F2 Gene:
The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The
encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in
immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for POU2F2 Gene:
POU2F2 (POU class 2 homeobox 2) is a protein-coding gene. Diseases associated with POU2F2 include nodular lymphocyte predominant hodgkin lymphoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO2F2_HUMAN, P09086
Function: Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates
transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates
transcription transactivation by NR3C1, AR and PGR. Isoform 5 activates the U2 small nuclear RNA (snRNA) promoter




(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_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POU2F2 gene promoter:
         NRSF form 1   NRSF form 2   Evi-1   E47   HNF-4alpha1   PPAR-gamma1   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOU2F2 promoter sequence
   Search Chromatin IP Primers for POU2F2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU2F2


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

POU2F2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU2F2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M042592:  view genomic region     (about GC identifiers)

Start:
42,590,263 bp from pter      End:
42,700,737 bp from pter
Size:
110,475 bases      Orientation:
minus 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: PO2F2_HUMAN, P09086 (See protein sequence)
Recommended Name: POU domain, class 2, transcription factor 2  
Size: 479 amino acids; 51209 Da
Subunit: Interacts with NR3C1, AR and PGR
Sequence caution: Sequence=CAA32039.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for POU2F2:
1HDP (3D)    
Secondary accessions: Q16648 Q7M4M8 Q9BRS4
Alternative splicing: 5 isoforms:  P09086-1   P09086-2   P09086-3   P09086-4   P09086-5   (Incomplete sequence)

Explore the universe of human proteins at neXtProt for POU2F2: NX_P09086

Explore proteomics data for POU2F2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See POU2F2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001193954.1  NP_001193955.1  NP_001234923.1  NP_002689.1  

    ENSEMBL proteins: 
     ENSP00000373992   ENSP00000437221   ENSP00000452930   ENSP00000431603   ENSP00000437224  
     ENSP00000436100   ENSP00000453995   ENSP00000454179   ENSP00000453255   ENSP00000436988  
     ENSP00000471890   ENSP00000475664   ENSP00000476062   ENSP00000476240   ENSP00000339369  

    POU2F2 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for POU2F2 (3 products) 

     
    antibodies-online peptides for POU2F2

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    antibodies-online kits for POU2F2 (15 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POU: Homeoboxes / POU class

    Selected InterPro protein domains (see all 7):
     IPR010982 Lambda_DNA-bd_dom
     IPR000972 TF_octamer
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P09086

    ProtoNet protein and cluster: P09086

    3 Blocks protein domains:
    IPB000327 POU domain
    IPB000972 Octamer-binding transcription factor signature
    IPB013847 POU


    UniProtKB/Swiss-Prot: PO2F2_HUMAN, P09086
    Similarity: Belongs to the POU transcription factor family. Class-2 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    Find genes that share domains with POU2F2           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: PO2F2_HUMAN, P09086
    Function: Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates
    transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates
    transcription transactivation by NR3C1, AR and PGR. Isoform 5 activates the U2 small nuclear RNA (snRNA) promoter

         Genatlas biochemistry entry for POU2F2:
    POU domain,class 2,transcription factor 2,expressed in the immune system,also involved in the control of the
    forebrain development and the cell-cell signaling process underlying the hypothalamic regulation of female
    puberty

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0019904protein domain specific binding IEA--
    GO:0043565sequence-specific DNA binding IDA9242494
         
    Find genes that share ontologies with POU2F2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for POU2F2:
     Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pou2f2):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  respiratory system 

    Find genes that share phenotypes with POU2F2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for POU2F2: Pou2f2tm1Bal Pou2f2tm1Lmc

       genOway: Develop your customized and physiologically relevant rodent model for POU2F2

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ATATGCAAAT 

    miRNA
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    miRTarBase miRNAs that target POU2F2:
    hsa-mir-9-5p (MIRT000639)

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    Selected qRT-PCR Assays for microRNAs that regulate POU2F2 (see all 92):
    hsa-miR-218-1* hsa-miR-149 hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-3612 hsa-miR-3622a-5p hsa-miR-4289 hsa-miR-663
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POU2F2

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU2F2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU2F2


    (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
    PO2F2_HUMAN, P09086: Cytoplasm (By similarity). Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9242494
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with POU2F2           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 POU2F2 About    
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    BCR signaling pathway0.42
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    3Development Glucocorticoid receptor signaling
    Development Glucocorticoid receptor signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for POU2F2
        Development Glucocorticoid receptor signaling

    2 BioSystems Pathways for POU2F2
        SIDS Susceptibility Pathways
    BCR signaling pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU2F2: 
              T Helper Cell Differentiation in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POU2F2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for POU2F2 (P090863 ENSP000003739924) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MNAT1P519483, ENSP000002612454I2D: score=3 STRING: ENSP00000261245
    NR3C1P041503, ENSP000002315094I2D: score=3 STRING: ENSP00000231509
    XRCC6P129563, ENSP000003522574I2D: score=3 STRING: ENSP00000352257
    TBPP202263, ENSP000002303544I2D: score=2 STRING: ENSP00000230354
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002335mature B cell differentiation IEA--
    GO:0002380immunoglobulin secretion involved in immune response IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS9442393
    GO:0006959humoral immune response TAS9442393

    Find genes that share ontologies with POU2F2           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 POU2F2 (PO2F2)

    7 Novoseek inferred chemical compound relationships for POU2F2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    okadaic acid 14.8 1 10727398 (1)
    oligonucleotide 0 2 8026890 (1), 11368023 (1)
    steroid 0 1 10433239 (1)
    tyrosine 0 5 8672399 (4)
    glutamate 0 8 14756804 (4), 16787415 (1), 1358756 (1)
    gnrh 0 1 11036938 (1)
    serine 0 1 2302733 (1)



    Find genes that share compounds with POU2F2           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 POU2F2 gene (4 alternative transcripts): 
    NM_001207025.2  NM_001207026.1  NM_001247994.1  NM_002698.4  

    Unigene Cluster for POU2F2:

    POU class 2 homeobox 2
    Hs.147381  [show with all ESTs]
    Unigene Representative Sequence: NM_001207025
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000389341(uc002osn.3 uc002osq.3) ENST00000533720 ENST00000560804
    ENST00000526816 ENST00000529067 ENST00000534559 ENST00000533548 ENST00000560558
    ENST00000560398 ENST00000529952(uc002osr.2) ENST00000598842 ENST00000528894
    ENST00000526831 ENST00000530982 ENST00000531773 ENST00000524801 ENST00000532176
    ENST00000558596
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    Selected qRT-PCR Assays for microRNAs that regulate POU2F2 (see all 92):
    hsa-miR-218-1* hsa-miR-149 hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-3612 hsa-miR-3622a-5p hsa-miR-4289 hsa-miR-663
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    GenScript: all cDNA clones in your preferred vector: POU2F2 (NM_002698)
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      QuantiTect SYBR Green Assays in human, mouse, rat POU2F2
      QuantiFast Probe-based Assays in human, mouse, rat POU2F2

    Additional mRNA sequence: 

    AL833648.1 BC006101.1 BT007438.1 M22596.1 M36542.1 M36653.1 M36718.1 M36772.1 
    X13809.1 X13810.1 X53468.1 X53469.1 

    16 DOTS entries:

    DT.100785009  DT.99990511  DT.95069801  DT.100785010  DT.121453175  DT.91700060  DT.413141  DT.100785013 
    DT.413142  DT.413561  DT.65286027  DT.86836027  DT.91741185  DT.95069804  DT.97762188  DT.97775242 

    Selected AceView cDNA sequences (see all 219):

    BU428722 AA400730 M36718 BE465551 AI553728 AA832036 AA805083 AI208828 
    CF137658 CR604513 AA829950 BX100387 AI364649 AU186044 AA749285 AW166309 
    AA805157 BU430118 AA894446 CR594168 AA731643 BM810914 AW135115 AA011627 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POU2F2 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                      -           -     -     -                 -     -                                                     -           -   
    SP2:                                      -           -     -     -                 -                                                                           
    SP3:                                      -           -                             -                                                                           
    SP4:                                      -           -     -     -                                                                                             
    SP5:                                                        -     -                 -                                                                           

    ExUns: 19
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for POU2F2

    (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)
    About This Section

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    POU2F2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAGATGA
    POU2F2 Expression
    About this image


    POU2F2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    POU2F2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POU2F2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147381

    UniProtKB/Swiss-Prot: PO2F2_HUMAN, P09086
    Tissue specificity: Isoform 3 is B-cell specific. Isoform 5 is expressed in B-cells and the
    immunoglobulin-expressing T-cell line MOLT-4, but not in the T-cell line BW5147

        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU2F2: 
              T Helper Cell Differentiation in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat POU2F2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU2F2

    (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 POU2F2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pou2f21 , 5 POU domain, class 2, transcription factor 21, 5 94.6(n)1
    98.45(a)1
      7 (13.73 cM)5
    189871  NM_001163554.11  NP_001157026.11 
     250911145 
    lizard
    (Anolis carolinensis)
    Reptilia POU2F26
    POU class 2 homeobox 2
    47(a)
    1 ↔ 1
    GL343909.1(90878-109230)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pou2f21 POU class 2 homeobox 2 66.74(n)
    71.62(a)
      100497329  XM_002936399.2  XP_002936445.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pou2f2a1 POU domain, class 2, transcription factor 2a 65.42(n)
    68.3(a)
      557055  XM_005173510.1  XP_005173567.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nub3 neuroblast determination transcription
    factor
    74(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-63 Homeobox domain, Pou domain -
    N-terminal to homeobox more
    55(a)   I(8506480-8510320)   --


    ENSEMBL Gene Tree for POU2F2 (if available)
    TreeFam Gene Tree for POU2F2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POU2F2 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU3F42  POU1F12  POU3F32  
    POU4F32  POU3F22  POU5F1B2  POU4F12  POU2F12  POU6F12  POU5F12  
    14 SIMAP similar genes for POU2F2 using alignment to 12 protein entries:     PO2F2_HUMAN (see all proteins):
    OCT-2    OCT6    POU2F3    POU1F1    POU6F1    POU2F1
    POU5F1P1    POU5F1P4    POU3F1    POU5F1    POU5F1B    POU4F3
    POU3F2    POU3F4

    Find genes that share paralogs with POU2F2           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 POU2F2 (see all 728)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129730441,2
    A--42597161(+) tatatA/Tttttt 4 -- int10--------
    rs1906209721,2
    --42779628(+) TAATTG/TTTTTT 3 -- ds50010--------
    rs2018640101,2
    C--42779640(+) TTTTG-/TTTTTT 3 -- ds50010--------
    rs1399787441,2
    C--42779656(+) TTTTTA/GGACAA 3 -- ds50010--------
    rs124602721,2
    H--42779706(+) attacA/Ggttca 3 -- ds50010--------
    rs1418233071,2
    --42780197(+) TCAGAC/TGGAAC 3 -- ut310--------
    rs129921,2
    C--42780230(+) AGGATG/TGAGGA 3 -- ut313Minor allele frequency- T:0.00MN NA 188
    rs37606421,2
    C,F,H--42780353(+) GGTGGT/CGAAAG 3 -- ut314Minor allele frequency- C:0.01EA NS NA 172
    rs1818623301,2
    --42780560(+) CTCTAC/TGAGTT 3 -- ut310--------
    rs2001275491,2
    C--42780569(+) TTGCC-/GAGAGAG 3 -- ut310--------
    rs1868835721,2
    C--42780971(+) TTTTTC/TCCAAC 3 -- ut310--------
    rs10569951,2
    C,F,O,H--42781200(-) ATGAAC/TACCAG 3 -- ut3129Minor allele frequency- T:0.41MN NS EA NA WA CSA 2790
    rs1903907461,2
    --42781254(+) GGCTAG/TTCCCT 3 -- ut310--------
    rs1812572921,2
    --42781364(+) CTCCTA/CCTGGG 3 -- ut310--------
    rs797310151,2
    C,F--42781409(+) CACACC/ACACCC 3 -- ut311Minor allele frequency- A:0.03WA 118
    rs11527121,2
    C,F,H--42781820(+) ACCAGA/CGTGTA 3 -- ut3111Minor allele frequency- C:0.19MN NS NA WA 1546
    rs1853188821,2
    --42782014(+) AGGGGA/GAGACC 3 -- ut310--------
    rs1897337521,2
    --42782016(+) GGGGAC/GACCTG 3 -- ut310--------
    rs1484453121,2
    --42782029(+) GCTCAA/CCTGCC 3 -- ut310--------
    rs1426124971,2
    --42782082(+) CTGTAA/GTTAAA 3 -- ut310--------
    rs1828488011,2
    --42782192(+) CGGCTC/GCACAG 3 -- ut310--------
    rs1509703021,2
    --42782559(+) GCCCAA/GGCCCT 3 -- ut310--------
    rs104254021,2
    C,H--42782645(+) GCGGAG/AATGCT 3 -- ut316Minor allele frequency- A:0.00NS EA NA 420
    rs1156942211,2
    C,F--42782718(+) GGCTAC/TTTCAC 3 -- ut311Minor allele frequency- T:0.07WA 118
    rs104256821,2
    C,F,H--42782789(+) GCCCAG/ACCCAA 3 -- ut318Minor allele frequency- A:0.01NS EA NA 1044
    rs1889302211,2
    --42782809(+) TTCCCA/GGGTGG 3 -- ut310--------
    rs1395044681,2
    C--42782852(+) AGGCCC/TGGAGC 3 -- ut310--------
    rs2011402491,2
    C--42782984(+) GGCTGG/TCAGGC 3 -- ut310--------
    rs739328721,2
    C,F--42782991(+) AGGCCC/GCACCC 3 -- ut312Minor allele frequency- G:0.03WA 120
    rs1922148621,2
    --42783222(+) AAGTTA/GTTAAG 3 -- ut310--------
    rs169756631,2
    C,F,H--42783431(+) AAGACA/GACGTC 3 -- ut3118Minor allele frequency- G:0.15NA NS EA CSA WA 2353
    rs1835379271,2
    --42783715(+) AGGGTA/GGCTCC 3 -- ut310--------
    rs770745191,2
    F--42783758(+) GAGACA/GTGTCC 3 -- ut310--------
    rs1875843311,2
    --42783764(+) TGTCCA/GGGGCT 3 -- ut310--------
    rs1920165381,2
    C--42783822(+) GGTGGC/TCACCA 3 -- ut310--------
    rs1842092151,2
    --42783942(+) CATGTC/GGGGGG 3 -- ut310--------
    rs1869897191,2
    --42784036(+) AAGAAC/TGTGAA 3 -- ut310--------
    rs1925080221,2
    --42784115(+) GACAAC/TTGAAT 3 -- ut310--------
    rs118788111,2
    C,F,H--42784198(+) TTCCAG/CAGCAG 3 -- ut318Minor allele frequency- C:0.04NS EA NA WA 748
    rs1844140661,2
    --42784502(+) TAAGGC/TTGTTC 3 -- ut310--------
    rs1905044551,2
    --42784563(+) AAGCCC/TCAGCC 3 -- ut310--------
    rs763351221,2
    C,F--42784609(+) AGGGCT/GGGGGG 3 -- ut312Minor allele frequency- G:0.07NA EA 240
    rs1477638681,2
    --42784634(+) CTGGCA/GTCTTC 3 -- ut310--------
    rs1824781521,2
    --42784668(+) CGGGGA/GAGGCA 3 -- ut310--------
    rs1845782121,2
    --42784680(+) GGTTGG/TGGGTT 3 -- ut310--------
    rs1889847581,2
    C--42784765(+) TTTGGC/TGTCGT 3 -- ut310--------
    rs1813819401,2
    --42784812(+) ACTGGA/TTTTTT 3 -- ut310--------
    rs2013344661,2
    C--42784956(+) AGTTTC/TTTTCC 3 -- ut310--------
    rs1123650021,2
    C,F--42785151(+) TCGGGG/CCCCCC 3 -- ut311Minor allele frequency- C:0.50NA 2
    rs1468901961,2
    C--42785169(+) CCAGGA/GGTCTG 3 -- ut310--------
    rs1856630061,2
    --42785340(+) TGATTA/CAAGAA 4 -- ds5001 ut310--------
    rs1898158221,2
    --42785412(+) TTCCCA/GCTGCC 4 -- ds5001 ut310--------
    rs2020573761,2
    --42785417(+) GCTGCC/TATCAA 4 -- ds5001 ut310--------
    rs1458605411,2
    C--42785464(+) CTGGCA/GGGGAG 4 -- ds5001 int10--------
    rs2008710441,2
    --42785499(+) GCCGGA/GCCAGG 4 -- ds5001 int10--------
    rs72569771,2
    C,H--42785500(+) CCGGGC/TCAGGG 4 -- ds5001 int15Minor allele frequency- T:0.00NS EA NA 420
    rs1489926831,2
    C--42785506(+) CAGGGA/GAGACC 4 -- ds5001 int10--------
    rs1437518641,2
    --42785540(+) GAGTGC/TCCCCC 4 -- ds5001 int10--------
    rs1146219561,2
    F--42785556(+) CCCATC/TGGTCC 4 -- ds5001 int11Minor allele frequency- T:0.02WA 118
    rs1481219281,2
    --42785641(+) GCAGGA/GGCAGG 4 -- ds5001 int10--------
    rs1428276471,2
    --42785706(+) GTGACG/TATGGG 4 -- ut31 int10--------
    rs1810041531,2
    --42785744(+) ATAGTG/TGCCAA 4 -- ut31 int10--------
    rs788164991,2
    C--42785771(+) AGGGCC/TGGACT 4 -- ut31 int11Minor allele frequency- T:0.50NA 2
    rs1859887991,2
    C--42786017(+) TGGCCA/GGGGGT 7 P L mis1 int10--------
    rs1906596441,2
    --42786181(+) CACTCA/GTCCCC 4 -- int10--------
    rs1841030101,2
    C--42786236(+) CTCACA/GCAGCA 4 -- int10--------
    rs1863020501,2
    --42786279(+) GCCCTC/TTCTTC 4 -- int10--------
    rs1387890931,2
    --42786406(+) TTACCA/GACTAG 4 -- int10--------
    rs1418625831,2
    --42786685(+) AGAATC/TAAGTC 4 -- int10--------
    rs1462856781,2
    --42787208(+) GTGTAG/TAACCA 4 -- int10--------
    rs1906483191,2
    --42787235(+) GTGTCC/TCAGGA 4 -- int10--------
    rs1380862601,2
    --42787251(+) GAGGGC/GAACTC 4 -- int10--------
    rs1830256971,2
    --42787362(+) ATAATA/GATTTA 4 -- int10--------
    rs2004457541,2
    --42787743(+) TCCCCA/GCGCCC 8 A V mis10--------
    rs3750072491,2
    C--42787818(+) CCGTGA/CTGCTC 4 -- int10--------
    rs116710881,2
    C,H--42787930(+) TGATCC/ATGAGC 4 -- int17Minor allele frequency- A:0.00NS EA NA 602
    rs753976011,2
    C--42787942(+) ACAAGC/GAGGAA 4 -- int10--------
    rs1495179881,2
    C--42788240(+) GCATCA/GGGGTG 4 -- int10--------
    rs798714481,2
    C,F--42788304(+) CCCCAC/TCTCCA 4 -- int13Minor allele frequency- T:0.09NA 124
    rs789807281,2
    C,F--42788366(+) TCCCCA/GGCTCA 4 -- int11Minor allele frequency- G:0.06WA 118
    rs3743200351,2
    C--42788596(+) CTGGC-/AAACTCT 4 -- int10--------
    rs1440220731,2
    --42788902(+) GTGGCC/TATGGC 4 -- int10--------
    rs1928720201,2
    C--42789204(+) GGGGCC/TGCACT 8 A syn10--------
    rs768248561,2
    C--42789567(+) TGTGCG/ACCGGG 4 -- int11Minor allele frequency- A:0.01EA 120
    rs1995594541,2
    --42789611(+) CCAGCA/GGCCAC 4 -- int10--------
    rs1382432651,2
    C,F--42789710(+) TTGAAG/ACTCAG 8 /S syn12Minor allele frequency- A:0.00NA EU 5873
    rs1879296261,2
    C--42789827(+) CCGAAA/GTCAGG 4 -- int10--------
    rs2011853731,2
    --42789915(+) CCCCAA/CGCCCA 4 -- int10--------
    rs2005443741,2
    --42790058(+) ATTTGG/TGGGGC 8 H P mis10--------
    rs1171028951,2
    F--42790254(+) AAGCAC/TCGTCA 4 -- int11Minor allele frequency- T:0.01NA 120
    rs1135228561,2
    C,F--42790255(+) AGCACC/TGTCAA 4 -- int13Minor allele frequency- T:0.08CSA WA 120
    rs1486424401,2
    --42790307(+) AAGGTC/TCGACT 4 -- int10--------
    rs1921797271,2
    --42790580(+) AATCGA/GGTTAA 4 -- int10--------
    rs588764391,2
    C,F--42790699(+) GTTACG/ACTTGT 4 -- int15Minor allele frequency- A:0.06NA CSA WA 244
    rs1847306771,2
    --42790936(+) ATCTGA/GGATTC 4 -- int10--------
    rs48021311,2
    C,F,H--42791027(+) CTCCAA/GAATGC 4 -- int113Minor allele frequency- G:0.04NS EA NA 1338
    rs116665471,2
    C,F,H--42791174(+) atactC/Actgcc 4 -- int11Minor allele frequency- A:0.50NA 4
    rs1442568471,2
    --42791190(+) CTCCCC/GAGTAG 4 -- int10--------
    rs1893192771,2
    --42791274(+) GGTCAA/GGCTGG 4 -- int10--------
    rs1473544581,2
    --42791327(+) CCAAAC/GTGCTG 4 -- int10--------
    rs104090211,2
    C,F,H--42791380(+) tttggT/Gataaa 4 -- int12Minor allele frequency- G:0.23NS NA 288
    rs1394971251,2
    C--42791403(+) CGAGTA/GCAATG 4 -- int10--------
    rs1450236701,2
    --42791560(+) AGTACC/TAGCAA 4 -- int10--------
    rs788089941,2
    C--42791745(+) TGAAGC/TGTAGG 4 -- int10--------
    rs1171349001,2
    F--42791811(+) CATCAT/CCCACC 4 -- int11Minor allele frequency- C:0.02NA 120
    rs129859731,2
    H--42791960(+) gcaccA/Cccgtg 4 -- int14Minor allele frequency- C:0.00NS EA 420
    rs1405944091,2
    C--42792191(+) AGGAGA/CATCGC 4 -- int10--------
    rs96762631,2
    C,F,H--42792298(+) aaaacA/Caaaag 4 -- int1 trp35Minor allele frequency- C:0.01NS NA 676
    rs1131602241,2
    C,F--42792330(+) TATATC/TATAGA 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1453158741,2
    --42792411(+) TGCAGC/TAGCAA 4 -- int10--------
    rs1413011531,2
    --42792442(+) CAAAGA/GAAAGT 4 -- int10--------
    rs1922693961,2
    --42792510(+) CAATGA/GTGGAA 4 -- int10--------
    rs766620401,2
    C,F--42792522(+) AACAAC/ATTGAC 4 -- int11Minor allele frequency- A:0.03NA 120
    rs1842748191,2
    --42792591(+) TCAGTC/GAGTCC 4 -- int10--------
    rs1896946081,2
    --42792640(+) AAAAAA/GTGGGT 4 -- int10--------
    rs755431351,2
    C,F--42792788(+) TCTGCT/ACCTGC 4 -- int12Minor allele frequency- A:0.08NA EA 240
    rs1814674721,2
    --42792921(+) AATGAA/CCAAAT 4 -- int10--------
    rs1118606071,2
    C,F--42792953(+) TTTTCG/AGTCTC 4 -- int11Minor allele frequency- A:0.50CSA 2
    rs1862046921,2
    --42793077(+) CTTGCA/CATTTT 4 -- int10--------
    rs2009197261,2
    --42793465(+) GAATAG/TATTTG 8 I L mis10--------
    rs1486541321,2
    C--42793478(+) GTCGGT/GAGCAG 8 /L syn11Minor allele frequency- G:0.00NA 4546
    rs12058171,2
    C,F,O,A,H--42793491(-) TGTCTT/CTCCAG 4 -- int130Minor allele frequency- C:0.30EA NA MN NS WA CSA EU 5162
    rs1999043871,2
    --42793500(+) CAAGGG/TGAAAT 4 -- int10--------
    rs1153462461,2
    C,F--42793507(+) AAATAC/TACAGG 4 -- int11Minor allele frequency- T:0.03WA 118
    rs1412614591,2
    C,F--42793591(+) GCTGGC/TTCTGC 8 N S mis11Minor allele frequency- T:0.00NA 3488
    rs800972931,2
    F--42793822(+) TGAGGG/TATCGT 4 -- int11Minor allele frequency- T:0.01EA 120
    rs1388630171,2
    --42793910(+) CAACTA/GGGCAG 4 -- int10--------
    rs1806820531,2
    C--42794045(+) TCTCCG/TCCTCC 4 -- int10--------
    rs1405614271,2
    --42794730(+) GGGAGA/GCCGAG 4 -- int10--------
    rs1436443561,2
    C--42794950(+) CCTGGA/GTGACA 4 -- int10--------
    rs1480698431,2
    C--42795177(+) CAGAAC/TCTCAG 4 -- int10--------
    rs1865840441,2
    --42795313(+) GATAAC/GGGGAA 4 -- int10--------
    rs1909927551,2
    --42795541(+) CTAATA/GTAGGC 4 -- int10--------
    rs1417697371,2
    C--42795752(+) GGCAGA/GAGAAT 4 -- int10--------
    rs1505629801,2
    --42795912(+) CATGTA/GACCCA 4 -- int10--------
    rs1831365301,2
    --42795965(+) GTTCAC/TGTGGA 4 -- int10--------
    rs752309791,2
    C--42796084(+) AGTCAT/CGGTTA 4 -- int15Minor allele frequency- C:0.11CSA WA NA EA 360
    rs1870565351,2
    --42796181(+) TTTGGG/TGAGTA 4 -- int10--------
    rs1385635501,2
    C--42796246(+) ATCTGA/GGTACC 4 -- int10--------
    rs1428005341,2
    --42796264(+) TGGGTA/GTGCTC 4 -- int10--------
    rs1914438931,2
    --42796424(+) TTCAAA/GACCAG 4 -- int10--------
    rs1169264801,2
    F--42796697(+) TTTTAC/TGTTTA 4 -- int11Minor allele frequency- T:0.01EA 120
    rs1473906801,2
    C--42797059(+) CCCCTG/TGCCTG 4 -- int10--------
    rs1833076401,2
    --42797230(+) GCCTAC/GAACAG 4 -- int10--------
    rs1395329361,2
    --42797252(+) CAGTAC/GGTGTT 4 -- int10--------
    rs1118322451,2
    C--42797656(+) CACCAA/C/TGCCTG 4 -- int10--------
    rs1450611371,2
    --42797709(+) GTTAGC/GCAGGA 4 -- int10--------
    rs1878055031,2
    --42797752(+) GCCTCA/GGCCTC 4 -- int10--------
    rs1438535831,2
    C--42798468(+) GAAAGC/GTCAAG 4 -- int10--------
    rs796214501,2
    C--42798519(+) ACACAA/CAAAAA 4 -- int10--------
    rs1429522871,2
    --42798537(+) TCTGGA/GTATTT 4 -- int10--------
    rs1928144921,2
    --42798564(+) TTGATA/GTCTGG 4 -- int10--------
    rs358639181,2
    C,F,H--42798590(+) GGCCAC/TGCTGT 4 -- int115Minor allele frequency- T:0.10NS EA NA 1364
    rs1821807471,2
    --42798665(+) TCTCAC/TCCCCA 4 -- int10--------
    rs785808301,2
    C,F--42798702(+) ACATCC/TCTGCT 4 -- int11Minor allele frequency- T:0.03NA 120
    rs1879009701,2
    --42798990(+) CAGGGC/TCCCCC 4 -- int10--------
    rs1924004511,2
    --42799010(+) GAACCC/TTTTCA 4 -- int10--------
    rs1845924581,2
    C--42799081(+) TGCATA/CATCTT 4 -- int10--------
    rs558411461,2
    C,F--42799142(+) TCAATG/CCATTT 4 -- int11Minor allele frequency- C:0.01NA 120
    rs1510928761,2
    --42799304(+) TTATTA/GCCAGC 4 -- int10--------
    rs604656981,2
    C--42799418(+) AGCCT-/AGAGAGG 4 -- int10--------
    rs1902890861,2
    --42799740(+) GAGGGA/GTCTAA 4 -- int10--------
    rs1413727251,2
    --42799853(+) ATATAG/TAGGAT 4 -- int10--------
    rs564004771,2
    C--42799920(+) TTCTT-/TCTT/ 
    TCTTTCTT
    CTTTC
    4 -- int11NA 2
    rs1437972041,2
    --42800190(+) CTAGGC/GTGGTC 4 -- int10--------
    rs1468251271,2
    C--42800209(+) CCGACA/CTCAGA 4 -- int10--------
    rs1405992171,2
    --42800440(+) CCATGC/TAATAT 4 -- int10--------
    rs1928178061,2
    --42800788(+) CTCAGA/GATGCT 4 -- int10--------
    rs1848956251,2
    --42800889(+) CACCCA/GTCTCC 4 -- int10--------
    rs1153199441,2
    F--42800917(+) AAAATA/TAATTA 4 -- int11Minor allele frequency- T:0.09WA 118
    rs1129664681,2
    C,F--42801032(+) CAACAC/TGGTGG 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1381288381,2
    C--42801120(+) GGGAGA/GCTGAG 4 -- int10--------
    rs758224511,2
    C,F--42801286(+) TCATAA/TAATCA 4 -- int13Minor allele frequency- T:0.11CSA WA 120
    rs1895586511,2
    --42801381(+) TGAAAA/CCAGTG 4 -- int10--------
    rs1810166141,2
    --42801460(+) TCAGTA/GCCGCT 4 -- int10--------
    rs761393831,2
    C,F--42801539(+) AAAAAT/CTGAGA 4 -- int13Minor allele frequency- C:0.10NA 124
    rs1491140141,2
    C--42801612(+) TGGTCC/TATGGA 4 -- int10--------
    rs790960991,2
    F--42801694(+) AATCCA/GGATCC 4 -- int10--------
    rs730514651,2
    C--42801869(+) CTACAC/GAGAGG 4 -- int10--------
    rs1837224881,2
    --42801911(+) AACGCC/TCCCTC 4 -- int10--------
    rs1428198751,2
    C--42801927(+) AGAGGC/TCTTCT 4 -- int10--------
    rs1120764221,2
    C--42801935(+) TCTCTG/AGCCAC 4 -- int11Minor allele frequency- A:0.50WA 2
    rs1881802821,2
    --42802108(+) AGAAAA/GGCACT 4 -- int10--------
    rs1469788631,2
    --42802117(+) CTTGGA/GCATGG 4 -- int10--------
    rs123278171,2
    H--42802236(+) gtggaT/Ctgctt 4 -- int11Minor allele frequency- C:0.00NS 120
    rs1819739691,2
    --42802240(+) ATTGCC/TTGAGC 4 -- int10--------
    rs1380254581,2
    --42802334(+) CTACTC/TGGGAG 4 -- int10--------
    rs344561581,2
    C--42802450(+) ATAAAC/ACAAAG 4 -- int11Minor allele frequency- A:0.50NA 2
    rs789122951,2
    C,F--42802691(+) TATTTT/CGTAGA 4 -- int13Minor allele frequency- C:0.11CSA WA 120
    rs1480424051,2
    C--42802738(+) ACAAG-/AGCT  
            
    AGCTA
    4 -- int10--------
    rs1870130541,2
    --42802836(+) GTGATC/TAATAC 4 -- int10--------
    rs37865401,2
    C,F,H--42802910(+) ACTTTG/AGCTAT 4 -- int111Minor allele frequency- A:0.12NA NS EA 1086
    rs1416664541,2
    --42802956(+) GATACA/GTGGGT 4 -- int10--------
    rs1505098281,2
    --42803043(+) TCACTA/GAGGAG 4 -- int10--------
    rs757809491,2
    C,F--42803137(+) CTCTCG/ACGCCC 4 -- int12Minor allele frequency- A:0.09CSA WA 119
    rs1394424881,2
    --42803155(+) AGGCCG/TCCACA 4 -- int10--------
    rs1492430511,2
    --42803473(+) GTACTC/GCATAT 4 -- int10--------
    rs1444164741,2
    --42803567(+) CAGTGC/TGTGAT 4 -- int10--------
    rs1401712291,2
    --42803597(+) GAACTC/TCTGGG 4 -- int10--------
    rs1438355661,2
    --42803739(+) ATTAGC/TCTGAT 4 -- int10--------
    rs783849441,2
    C,F--42803823(+) CTACTT/CAAAAA 4 -- int11Minor allele frequency- C:0.09WA 118
    rs1918878441,2
    --42803967(+) TTTTTA/TTTTTT 4 -- int10--------
    rs124610021,2
    C,F,H--42804092(+) ccactG/Acacct 4 -- int18Minor allele frequency- A:0.19NS EA NA 522
    rs1170078501,2
    F--42804132(+) CAAGAC/TCTCGT 4 -- int11Minor allele frequency- T:0.01NA 120
    rs1817218731,2
    --42804189(+) AAAATA/GAGGTC 4 -- int10--------
    rs1867318751,2
    --42804387(+) AAACTC/TGGGGG 4 -- int10--------
    rs1900521521,2
    --42804388(+) AACTCA/GGGGGT 4 -- int10--------
    rs764261351,2
    C,F--42804657(+) GTGTAG/TAATGT 4 -- int11Minor allele frequency- T:0.03WA 118
    rs1822830371,2
    --42804962(+) TGTCCA/CTCTAT 4 -- int10--------
    rs801790681,2
    F--42805139(+) GCATCA/CCCACA 4 -- int11Minor allele frequency- C:0.03NA 120
    rs1867223071,2
    --42805189(+) ATGTTG/TCCCAG 4 -- int10--------
    rs1895678231,2
    --42805303(+) GACAAC/TTAACA 4 -- int10--------
    rs1396369791,2
    --42805384(+) CATGTA/GGATGA 4 -- int10--------
    rs1141214751,2
    C,F--42805608(+) AAGCCA/CCCCTC 4 -- int11Minor allele frequency- C:0.06WA 118
    rs11527131,2
    C,F,H--42805669(+) ctcttA/Gtcccc 4 -- int16Minor allele frequency- G:0.00MN NS EA NA 604
    rs1832692231,2
    --42805705(+) AGTCGA/CTTAGT 4 -- int10--------
    rs1147838521,2
    C,F--42805838(+) TGTGGC/AGATCA 4 -- int11Minor allele frequency- A:0.03WA 118
    rs1510602841,2
    --42805954(+) GACAGC/GCAACA 4 -- int10--------
    rs1885854581,2
    --42806231(+) GGGACA/GTGTTT 4 -- int10--------
    rs1931998711,2
    --42806398(+) CGGCCA/GGCTAA 4 -- int10--------
    rs1851305351,2
    --42806993(+) TAGCAA/GCCTAA 4 -- int10--------
    rs1165928951,2
    C,F--42807049(+) GGAAAT/ATTTCC 4 -- int11Minor allele frequency- A:0.03WA 118
    rs765345071,2
    C,F--42807071(+) CAATAT/CAAAAT 4 -- int11Minor allele frequency- C:0.09WA 118
    rs789874331,2
    F--42807174(+) CTTGAT/CTGAAA 4 -- int11Minor allele frequency- C:0.02WA 118
    rs769393811,2
    C,F--42807186(+) TCTGCC/TGCAAA 4 -- int11Minor allele frequency- T:0.09WA 118
    rs744229291,2
    F--42807213(+) CGGTAA/CATATC 4 -- int11Minor allele frequency- C:0.02WA 118
    rs1149420301,2
    C,F--42807259(+) CAATGG/AACAGA 4 -- int11Minor allele frequency- A:0.09WA 118
    rs1883987181,2
    --42807298(+) CCTTCA/GTCTGT 4 -- int10--------
    rs793880701,2
    C,F--42807480(+) TTTCAA/GGTGAA 4 -- int11Minor allele frequency- G:0.09WA 118
    rs1918547271,2
    --42807824(+) AATGAC/TGTCAA 4 -- int10--------
    rs1840318061,2
    --42808001(+) TATACA/GGCAGG 4 -- int10--------
    rs1501872831,2
    --42808354(+) GCTCAC/GCCCCA 4 -- int10--------
    rs1154651811,2
    C,F--42808697(+) ACTTCA/GAGAGC 4 -- int11Minor allele frequency- G:0.09WA 118
    rs1478587111,2
    C--42808721(+) GCTACA/CTCTGG 4 -- int10--------
    rs1413994331,2
    --42808758(+) ATCCCA/GCACTT 4 -- int10--------
    rs1469889591,2
    --42808858(+) GTATAC/TATAAA 4 -- int10--------
    rs1120601091,2
    C--42809016(+) ATCTCA/-AAAAA 4 -- int11Minor allele frequency- -:0.00CSA 2
    rs788361821,2
    F--42809143(+) TTAAGG/AAAAGT 4 -- int11Minor allele frequency- A:0.01NA 120
    rs1883272951,2
    C--42809191(+) TTATTC/GGGGTG 4 -- int10--------
    rs1806864391,2
    --42809483(+) GACATA/GGGAAG 4 -- int10--------
    rs1380646181,2
    --42809974(+) CAATAC/TGTTTC 4 -- int10--------
    rs1858821961,2
    --42810005(+) TTTATA/GGTATT 4 -- int10--------
    rs1494869071,2
    --42810331(+) AGCACC/TGCCCC 4 -- int10--------
    rs1431015051,2
    C--42810399(+) TTTACC/TCCTCT 4 -- int10--------
    rs1482201821,2
    --42810400(+) TTACCC/TCTCTG 4 -- int10--------
    rs797491601,2
    F--42810634(+) GCTGGC/TTGGCA 4 -- int11Minor allele frequency- T:0.02WA 118
    rs1903552621,2
    --42810971(+) GGGGAC/TAAGAC 4 -- int10--------
    rs1821311221,2
    --42810990(+) GGACAA/GAAGAG 4 -- int10--------
    rs2018852231,2
    C--42811090(+) CCCCTC/TGTCCC 4 -- int10--------
    rs1507845961,2
    C,F--42811136(+) TGCCCG/ATCAAC 8 /T /M mis12Minor allele frequency- A:0.00NA EU 5773
    rs1866746901,2
    --42811288(+) CCAGAA/GAGAAT 4 -- int10--------
    rs1165136621,2
    F--42811383(+) GAGGGT/GGCAGT 4 -- int11Minor allele frequency- G:0.01WA 118
    rs1903782551,2
    --42811442(+) TCAGTC/TTCCTC 4 -- int10--------
    rs1812415981,2
    --42811535(+) GAGTCA/CGTTTT 4 -- int10--------
    rs1461782401,2
    --42811612(+) GAGGTC/TGAGGC 4 -- int10--------
    rs1160682691,2
    F--42811621(+) GCAGGA/C/TGGATC 4 -- int12WA NA 238
    rs1853003711,2
    --42811720(+) CCTGGA/GAGGTC 4 -- int10--------
    rs1401895421,2
    --42811936(+) ACAGGA/TGCCCA 4 -- int10--------
    rs1897165691,2
    --42811972(+) TTTTCC/TGTAGA 4 -- int10--------
    rs1422183121,2
    C--42812263(+) GAGCGC/TCTGCC 4 -- int10--------
    rs1145663221,2
    C,F--42812366(+) AGCATT/GTGTCC 4 -- int11Minor allele frequency- G:0.03WA 118
    rs599961081,2
    C,F--42812478(+) ACACAC/TCTTGC 4 -- int11Minor allele frequency- T:0.09WA 118
    rs745589601,2
    C,F--42812560(+) CAGCAG/ATTGTT 4 -- int11Minor allele frequency- A:0.07EA 120
    rs730514671,2
    C,F--42812604(+) TGGTGG/AGAGAA 4 -- int11Minor allele frequency- A:0.03NA 120
    rs1825564491,2
    --42812772(+) AATGTA/GGACAG 4 -- int10--------
    rs1892141131,2
    --42812809(+) AAATAA/GTAGAC 4 -- int10--------
    rs1463658771,2
    --42812903(+) GTAATC/TGCAGC 4 -- int10--------
    rs1171798821,2
    F--42812904(+) TAATCG/ACAGCA 4 -- int11Minor allele frequency- A:0.00NA 120
    rs1132958221,2
    C,F--42812944(+) TGAGGT/CCAGGA 4 -- int12Minor allele frequency- C:0.00CSA 2
    rs1996242551,2
    --42812991(+) CTCTT-/AAAAAA 4 -- int10--------
    rs1919128211,2
    --42812999(+) AAAAAA/GAAGAG 4 -- int10--------
    rs1500346991,2
    --42813181(+) TGAAAG/TTTCAC 4 -- int10--------
    rs1505407661,2
    C--42813215(+) TGTGT-/GTTTTA 4 -- int10--------
    rs1452711541,2
    C--42813501(+) GCCATC/TGCACT 4 -- int10--------
    rs590239511,2
    C--42813618(+) AGTGCA/GAGACT 4 -- int10--------
    rs580117831,2
    C,F--42813646(+) AGTTTT/AAAAAA 4 -- int11Minor allele frequency- A:0.09WA 118
    rs1837776351,2
    C--42813651(+) TAAAAA/GAATAA 4 -- int10--------
    rs1875748261,2
    --42814120(+) TCTCTA/GTTGCC 4 -- int10--------
    rs1919940421,2
    --42814249(+) TGCCCA/GGCTAA 4 -- int10--------
    rs1841915781,2
    --42814288(+) TCACCC/GTGTTG 4 -- int10--------
    rs16855621,2
    C,F,A,H--42814377(+) ccaccG/Tcgccc 4 -- int18Minor allele frequency- T:0.18NS EA NA WA CSA 542
    rs749781341,2
    C,F--42814498(+) TCATCA/GTATTT 4 -- int11Minor allele frequency- G:0.09WA 118
    rs1422794841,2
    --42814640(+) GGGCTC/TTATTT 4 -- int10--------
    rs1478684551,2
    --42814726(+) CAATTA/GACAAA 4 -- int10--------
    rs1871454301,2
    --42814761(+) AGTGGC/TCTTAT 4 -- int10--------
    rs1162009281,2
    C,F--42814869(+) AGGGCG/ATACAG 4 -- int11Minor allele frequency- A:0.05WA 118
    rs1915925051,2
    --42814886(+) TTGTGA/GACAGA 4 -- int10--------
    rs1153661601,2
    C--42815225(+) ACCACA/GGAGGC 4 -- int10--------
    rs1150514061,2
    F--42815268(+) AATGAT/CACTGA 4 -- int11Minor allele frequency- C:0.03WA 118
    rs1469989041,2
    --42815409(+) CCTGCC/TCACAC 4 -- int10--------
    rs783410761,2
    C,F--42815484(+) GGCTGG/AAGGGT 4 -- int11Minor allele frequency- A:0.03NA 120
    rs104215471,2
    C,F,A,H--42815922(+) TTGGAC/TTGAGG 4 -- int114Minor allele frequency- T:0.04NS EA NA 1764
    rs1475559131,2
    C--42816006(+) TGGGGC/TCAGTT 8 D G mis11Minor allele frequency- T:0.00NA 4550
    rs2006770821,2
    C,F--42816061(+) AGAGAA/GAGTAG 4 -- int11Minor allele frequency- G:0.00EU 1317
    rs1842963511,2
    --42816128(+) CCCTCC/TTACCA 4 -- int10--------
    rs1476394881,2
    C--42816139(+) TAGGCA/GGCACA 4 -- int10--------
    rs2009391781,2
    --42816249(+) GTCTGC/TAAAGA 4 -- int10--------
    rs1455185201,2
    C--42816415(+) TTCTCG/AGCCTC 8 /A syn11Minor allele frequency- A:0.00NA 4532
    rs2020218601,2
    --42816431(+) GCTTAA/GACATT 8 S F mis10--------
    rs1907592921,2
    --42816500(+) GCTCTC/TGGGCC 4 -- int10--------
    rs1408558721,2
    --42816640(+) ACAGCA/CCTTAG 4 -- int10--------
    rs751478511,2
    C,F--42816673(+) CCTTTC/TACCTC 4 -- int13Minor allele frequency- T:0.11CSA WA 120
    rs798418621,2
    C,F--42816747(+) TGGTCG/ATGAGA 4 -- int11Minor allele frequency- A:0.03WA 118
    rs1152244011,2
    C,F--42817130(+) CTAAAC/ACTGAT 4 -- int11Minor allele frequency- A:0.09WA 118
    rs11952991,2
    C,H--42817302(+) GCGCTC/TTGATA 4 -- int17Minor allele frequency- T:0.00MN NS EA NA 606
    rs768105601,2
    C,F--42817326(+) GGCGAG/ATGCTC 4 -- int11Minor allele frequency- A:0.09WA 118
    rs1931187951,2
    --42817357(+) TAGATA/CTGACT 4 -- int10--------
    rs763181201,2
    C,F--42817370(+) CAGCTC/TACATT 4 -- int11Minor allele frequency- T:0.02EA 120
    rs1501355521,2
    --42817465(+) AAGACA/TGCAGA 4 -- int10--------
    rs1132767071,2
    C,F--42817815(+) AAACCG/ATGACC 4 -- int11Minor allele frequency- A:0.50CSA 2
    rs1855395681,2
    --42817999(+) AACCCA