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LAMB3 Gene

protein-coding   GIFtS: 68
GCID: GC01M209788

Laminin, Beta 3

(Previous names: laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600...)
(Previous symbol: LAMNB1)
  See LAMB3-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
Laminin, Beta 31 2     Nicein Subunit Beta2 3
LAMNB11 2 3     BM600-125KDA2
Laminin, Beta 3 (Nicein (125kD), Kalinin (140kD), BM600 (125kD))1 2     LAM52
Epiligrin Subunit Bata2 3     kalinin-140kDa2
Kalinin B1 Chain2 3     Laminin S B3 Chain2
Kalinin Subunit Beta2 3     Laminin Subunit Beta-32
Laminin B1k Chain2 3     nicein-125kDa2
Laminin-5 Subunit Beta2 3     

External Ids:    HGNC: 64901   Entrez Gene: 39142   Ensembl: ENSG000001968787   OMIM: 1503105   UniProtKB: Q137513   

Export aliases for LAMB3 gene to outside databases

Previous GC identifers: GC01M208427 GC01M205494 GC01M206427 GC01M206867 GC01M206176 GC01M207854 GC01M180463


(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 LAMB3 Gene:
The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein
is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this
gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa,
diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants
that encode the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for LAMB3 Gene:
LAMB3 (laminin, beta 3) is a protein-coding gene. Diseases associated with LAMB3 include lamb3-related junctional epidermolysis bullosa, and maternal uniparental disomy of chromosome 1. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is NTN1.

UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
and organization of cells into tissues during embryonic development by interacting with other extracellular
matrix components

Gene Wiki entry for LAMB3 (Laminin, beta 3) 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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMB3 gene promoter:
         TBP   STAT3   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMB3 promoter sequence
   Search Chromatin IP Primers for LAMB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMB3


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32

LAMB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M209788:  view genomic region     (about GC identifiers)

Start:
209,788,215 bp from pter      End:
209,825,820 bp from pter
Size:
37,606 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 (See protein sequence)
Recommended Name: Laminin subunit beta-3 precursor  
Size: 1172 amino acids; 129572 Da
Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma),
which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short
arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein).
Interacts with ECM1
Secondary accessions: D3DT88 O14947 Q14733 Q9UJK4 Q9UJL1

Explore the universe of human proteins at neXtProt for LAMB3: NX_Q13751

Explore proteomics data for LAMB3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn220, Asn604, Ser712, Asn810
  • Modification sites at PhosphoSitePlus

  • See LAMB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000219.2  NP_001017402.1  NP_001121113.1  

    ENSEMBL proteins: 
     ENSP00000348384   ENSP00000355997   ENSP00000398683   ENSP00000388960   ENSP00000375778  
    Reactome Protein details: Q13751

    LAMB3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for LAMB3 


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

    3 InterPro protein domains:
     IPR008211 Laminin_N
     IPR013032 EGF-like_CS
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry Q13751

    ProtoNet protein and cluster: Q13751

    1 Blocks protein domain: IPB002049 Laminin-type EGF-like domain

    UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domain VI is globular
    Similarity: Contains 6 laminin EGF-like domains
    Similarity: Contains 1 laminin N-terminal domain


    Find genes that share domains with LAMB3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: LAMB3_HUMAN, Q13751
    Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
    and organization of cells into tissues during embryonic development by interacting with other extracellular
    matrix components

         Genatlas biochemistry entry for LAMB3:
    laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membrane zone,expressed in
    stratifying squamous epithelium

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS7550320
    GO:0005515protein binding IPI19275936
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with LAMB3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMB3:
     Cell cycle / mitosis defect 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lamb3):
     craniofacial  digestive/alimentary  integument  mortality/aging  respiratory system 

    Find genes that share phenotypes with LAMB3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMB3
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    miRNA
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    miRTarBase miRNAs that target LAMB3:
    hsa-mir-124-3p (MIRT023092), hsa-mir-16-5p (MIRT031939), hsa-mir-218-5p (MIRT001062)

    Block miRNA regulation of human, mouse, rat LAMB3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate LAMB3:
    hsa-miR-133a hsa-miR-133b hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidLAMB3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3


    (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
    LAMB3_HUMAN, Q13751: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane ----
    GO:0005610laminin-5 complex IEA--

    Find genes that share ontologies with LAMB3           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 LAMB3 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    3Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway
    Type I hemidesmosome assembly0.00
    4Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with LAMB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMB3 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for LAMB3
        Cell adhesion ECM remodeling

    2 BioSystems Pathways for LAMB3
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway

    Selected Reactome Pathways for LAMB3 (see all 6)
        Anchoring fibril formation
    Laminin interactions
    Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix


    Selected Kegg Pathways  (Kegg details for LAMB3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMB3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LAMB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LAMB3 (Q137512, 3 ENSP000003483844) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDIA3P301012, 3MINT-4301478 I2D: score=1 
    LAMA3Q167873, ENSP000003245324I2D: score=2 STRING: ENSP00000324532
    BMP1P134973, ENSP000003057144I2D: score=1 STRING: ENSP00000305714
    LAMC2Q137533, ENSP000002641444I2D: score=1 STRING: ENSP00000264144
    COL7A1Q023883, ENSP000003323714I2D: score=2 STRING: ENSP00000332371
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008544epidermis development TAS7774918
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--

    Find genes that share ontologies with LAMB3           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 LAMB3

    1 Novoseek inferred chemical compound relationship for LAMB3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 85.4 2 7833047 (1), 7635220 (1)



    Find genes that share compounds with LAMB3           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 LAMB3 gene (3 alternative transcripts): 
    NM_000228.2  NM_001017402.1  NM_001127641.1  

    Unigene Cluster for LAMB3:

    Laminin, beta 3
    Hs.497636  [show with all ESTs]
    Unigene Representative Sequence: NM_001017402
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356082(uc001hhh.3 uc010psl.1 uc009xcp.1) ENST00000367030
    ENST00000455193 ENST00000415782 ENST00000391911(uc001hhg.3 uc009xco.3)

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    hsa-miR-133a hsa-miR-133b hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidLAMB3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LAMB3
      QuantiFast Probe-based Assays in human, mouse, rat LAMB3

    Additional mRNA sequence: 

    AK296851.1 AK309524.1 AY035783.1 BC058922.1 BC075838.1 D37766.1 L25541.1 

    13 DOTS entries:

    DT.95186987  DT.86858908  DT.121417740  DT.121417732  DT.99927221  DT.100755268  DT.100014491  DT.100755266 
    DT.100755267  DT.121417754  DT.92409688  DT.95218181  DT.92443575 

    Selected AceView cDNA sequences (see all 248):

    BM043640 BM831008 CB853666 AI692263 BQ918264 AL555216 BQ687386 BU538660 
    BM047246 BQ951321 BQ951009 CA488672 BG681883 BQ083941 AI653969 BG680183 
    BM999909 BQ027535 AW087532 AW079615 BM819029 BM769454 BM831118 AL555685 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 (see all 17)    About this scheme

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

    ExUns: 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for LAMB3

    (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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    LAMB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTGAAAC
    LAMB3 Expression
    About this image


    LAMB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 7 entries
             Early Ameloblasts Dental Enamel
             Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Keratinocytes-like cells
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Epithelial-like cells
    LAMB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497636

    UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
    Tissue specificity: Found in the basement membranes (major component)

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMB3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for LAMB3
    OriGene qSTAR qPCR primer pairs in human, mouse for LAMB3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMB3
    QuantiTect SYBR Green Assays in human, mouse, rat LAMB3
    QuantiFast Probe-based Assays in human, mouse, rat LAMB3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB3

    (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 chordates.

    Orthologs for LAMB3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamb31 , 5 laminin, beta 31, 5 82.28(n)1
    82.62(a)1
      1 (97.71 cM)5
    167801  NM_001277928.11  NP_001264857.11 
     1933019575 
    chicken
    (Gallus gallus)
    Aves LAMB31 laminin, beta 3 62.38(n)
    53.69(a)
      428268  XM_425827.3  XP_425827.3 
    lizard
    (Anolis carolinensis)
    Reptilia LAMB36
    laminin, beta 3
    52(a)
    1 ↔ 1
    4(125895133-125933194)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lamb31 laminin, beta 3 58.01(n)
    51.31(a)
      100125073  XM_002933504.2  XP_002933550.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LAMB36
    laminin, beta 3
    30(a)
    1 ↔ 1
    22(1050511-1065964) ENSDARG00000059369


    ENSEMBL Gene Tree for LAMB3 (if available)
    TreeFam Gene Tree for LAMB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for LAMB3 gene
    NTN12  NTNG12  NTN32  NTN42  NTN52  NTNG22  
    4 SIMAP similar genes for LAMB3 using alignment to 2 protein entries:     LAMB3_HUMAN (see all proteins):
    LAMB4    LAMB1    LAMB2    NTN4

    Find genes that share paralogs with LAMB3           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 LAMB3 (see all 1254)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0373104
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0373102 G A mis40--------
    VAR_0041704
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0041702 E K mis40--------
    VAR_0041714
    Epidermolysis bullosa, junctional, Herlitz type (H-JEB)4--see VAR_0041712 P L mis40--------
    VAR_0358204
    A colorectal cancer sample4--see VAR_0358202 R C mis40--------
    VAR_0373114
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0373112 K Q mis40--------
    rs803566821,2
    C,Fpathogenic1216604237(-) AGATCC/TGAGCA 6 R * stg11Minor allele frequency- T:0.00NA 4552
    rs803566801,2
    Cpathogenic1216628538(-) TTCTCC/TGAGCT 6 R * stg11Minor allele frequency- T:0.00EU 1323
    rs2003223801,2
    Cuntested1216601113(+) TCCATC/G/TTGGGA 6 Q syn11EU 963
    rs114468101,2
    C--180482193(+) ATTCA-/CAAAAA 3 -- int1 trp30--------
    rs1138742401,2
    C--180494342(+) AGGGG-/A/AA  
            
    AAAAA
    3 -- int11CSA 2
    rs57805281,2
    C--209792015(+) GACAAC/-CACGC 3 -- int13Minor allele frequency- -:0.00NA CSA 10
    rs717736871,2
    C--209799707(+) CCTCT-/AAGAAGGA 6 -- int1 cds10--------
    rs717913101,2
    C--209799707(+) CCTCT-/AAGAAGGA 3 -- int10--------
    rs346763481,2
    C--209808737(+) TGTTT-/GTTT  
            
    TGAAA
    3 -- int11Minor allele frequency- GTTT:0.00NA 2
    rs107126611,2
    C--209812328(+) AAAAAG/-GGGGG 3 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs750096741,2
    --209812967(+) ATACAC/TATACA 3 -- int10--------
    rs558270141,2
    C--209812970(+) CACAT-/ACACAC
            
    ACACA
    3 -- int12Minor allele frequency- ACACAC:0.00NA CSA 4
    rs610803311,2
    C--209814428(+) AAAAA-/ATTTAA 3 -- int12Minor allele frequency- A:0.25NA 4
    rs127461031,2
    C--209814443(+) AAAAAA/TTTTAA 3 -- int1 trp30--------
    rs361060961,2
    C--209819083(+) AAAAA-/A/AAA 
            
    GCAGA
    6 -- int1 cds11NA 2
    rs1849507651,2
    --216592917(+) TTAACA/CATGAT 3 -- ds50010--------
    rs754121321,2
    C,F--216592981(+) TAACAC/TACAAA 3 -- ds50012Minor allele frequency- T:0.15NA EA 240
    rs1155813971,2
    F--216592995(+) CCATGC/ACATTC 3 -- ds50011Minor allele frequency- A:0.04WA 118
    rs74191871,2
    C,F,A--216593024(+) ACCCCC/TCACAC 3 -- ds50015Minor allele frequency- T:0.18WA NA EA 362
    rs1402451091,2
    --216593116(+) TGAACA/GTTCCT 3 -- ds50010--------
    rs1162952141,2
    F--216593154(+) TCTGTA/GAGCAA 3 -- ds50011Minor allele frequency- G:0.01NA 120
    rs768766021,2
    F--216593171(+) GAATCG/ACTGCT 3 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1499058881,2
    --216593236(+) GGGCAA/GAGGGG 3 -- ds50010--------
    rs1142137991,2
    F--216593266(+) GGTGCC/GCAGAA 3 -- ds50011Minor allele frequency- G:0.03WA 118
    rs777709681,2
    F--216593346(+) GACAGA/GAACAG 3 -- ds50011Minor allele frequency- G:0.04WA 118
    rs9263871,2
    C,F,O,H--216593383(+) CAGACC/TGTTTT 3 -- ds500126Minor allele frequency- T:0.22NA EA NS WA CSA 2299
    rs120740711,2
    C,F--216593384(+) AGACTG/ATTTTT 3 -- ds50011Minor allele frequency- A:0.19EA 120
    rs1881209551,2
    --216593511(+) GCGGGA/GGATAC 3 -- ut310--------
    rs1930692911,2
    --216593548(+) GAGCTA/CTTAGT 3 -- ut310--------
    rs1457925051,2
    --216593582(+) CATCTC/TTGTCT 3 -- ut310--------
    rs1853628311,2
    C--216593662(+) GGGGTA/GGTCCA 3 -- ut310--------
    rs25661,2
    C,F,A,H--216593684(-) TCATGC/TAGCCT 3 -- ut31 ese334Minor allele frequency- N:0.00MN EA NA NS WA CSA 4796
    rs2019712671,2
    --216593756(+) CAGATA/GAGTGG 3 -- ut310--------
    rs1479315021,2
    C,F--216593826(+) TGATGT/CGGTCA 6 /H /R mis12Minor allele frequency- C:0.00NA EU 5875
    rs22283421,2
    C,F,H--216593857(-) CAGGAC/TTGGAG 6 L syn1 ese327Minor allele frequency- T:0.07MN NA NS EA WA EU 8391
    rs1488314991,2
    C,F--216593869(+) CAGGTC/ACGCTG 6 /D /Y mis11Minor allele frequency- A:0.00NA 4552
    rs2004690351,2
    C--216593870(+) AGGTCC/TGCTGA 6 A syn11Minor allele frequency- T:0.00EU 1317
    rs10496071,2
    C,F,H--216593873(-) CGCTCA/GGCGGA 6 S syn141Minor allele frequency- G:0.45NA MN NS EA WA CSA EU 10218
    rs1157121321,2
    C,F--216593901(+) TGCCCC/TGCAGC 6 Q R mis13Minor allele frequency- T:0.00EU NA 5947
    rs1128814171,2
    C--216593925(+) TGTCTC/G/TAGGCA 3 -- int11CSA 1
    rs1892969531,2
    --216593975(+) CCCCAA/GGACTC 3 -- int10--------
    rs775673041,2
    F--216593980(+) AGACTC/TCCAAC 3 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1489867031,2
    --216593985(+) CCCAAA/CCCTTC 3 -- int10--------
    rs1471084561,2
    --216593999(+) CCCCTC/TCTGCT 3 -- int10--------
    rs1925479531,2
    --216594234(+) TATCTC/TAGCGA 3 -- int10--------
    rs20762271,2
    C,F,O,A,H--216594256(+) CCCAGG/AAGCCC 3 -- int138Minor allele frequency- A:0.23EA NA NS WA CSA 5069
    rs1385796001,2
    --216594259(+) AGGAGC/GCCCTG 3 -- int10--------
    rs1835173761,2
    --216594340(+) CCCTTA/GGATGT 3 -- int10--------
    rs764771231,2
    F--216594354(+) CTACCG/ACCTCC 3 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs1423369621,2
    --216594395(+) AGAAGA/CCAGGC 3 -- int10--------
    rs1882091121,2
    --216594419(+) ATGTTA/GACCTC 3 -- int10--------
    rs20762311,2
    C,F,O,A,H--216594488(+) ACATAC/TCTTGT 3 -- int138Minor allele frequency- T:0.22EA NA NS WA CSA 4263
    rs1810062411,2
    --216594508(+) CCAACA/TCCCTT 3 -- int10--------
    rs20762321,2
    C,F,H--216594637(+) CTGAAC/TCCCAG 3 -- int110Minor allele frequency- T:0.16EA NS NA 2320
    rs1510951961,2
    C--216594663(+) ACCCC-/TATCAG 3 -- int10--------
    rs730816481,2
    C,F--216594690(+) TTAAAT/CATAAT 3 -- int13Minor allele frequency- C:0.25WA 122
    rs1864211401,2
    --216594748(+) ACTGTC/TTGCAA 3 -- int10--------
    rs2010845791,2
    C--216594783(+) TGCAA-/GCGCTTT 3 -- int10--------
    rs1464568041,2
    C--216594906(+) AAGAAC/TGGGCT 3 -- int10--------
    rs1166079431,2
    C,F--216594925(+) CTTGGG/ATTGGG 3 -- int11Minor allele frequency- A:0.02NA 120
    rs1897768681,2
    C--216594977(+) AACCAA/TTCCCT 3 -- int10--------
    rs1132853651,2
    C--216594984(+) CCCTCA/GCCTTT 3 -- spd10--------
    rs1129884761,2
    C--216594985(+) CCTCAC/TCTTTC 3 -- spd10--------
    rs784832181,2
    C,F--216595000(+) TGTCCA/TTCATC 6 K M mis12Minor allele frequency- T:0.01EA NA 432
    rs1145604981,2
    C--216595017(+) GTCTCC/TCCAAA 6 G syn11Minor allele frequency- T:0.01EA 218
    rs1508597151,2
    C--216595045(+) TCTTCA/CCACTC 6 G V mis11Minor allele frequency- C:0.00NA 4552
    rs1495738311,2
    C--216595057(+) GGATCC/TGGGCA 6 Q R mis11Minor allele frequency- T:0.00NA 4552
    rs1165804401,2
    --216595075(+) CACCCA/GGCATG 6 P L mis11Minor allele frequency- G:0.01NA 214
    rs1861301431,2
    C--216595096(+) CCAACC/TGGTCC 6 Q R mis10--------
    rs1908476471,2
    C--216595180(+) TCATGC/GAAGGT 3 -- int10--------
    rs1834725991,2
    --216595303(+) ACAGAC/TTATGA 3 -- int10--------
    rs1851805531,2
    --216595372(+) CCCAGA/GACAAT 3 -- int10--------
    rs1909750701,2
    --216595483(+) ATAGCA/GGGAGC 3 -- int10--------
    rs1482991791,2
    --216595590(+) ATCTGC/TCCAGG 3 -- int10--------
    rs1414455341,2
    C--216595671(+) TGAACA/GAGTCA 3 -- int10--------
    rs1166784601,2
    C--216595708(+) CTGGAC/TTAGGT 3 -- int10--------
    rs412748281,2
    C,F--216595877(+) CAGGAC/GCCCCT 3 -- int11Minor allele frequency- G:0.03EU 591
    rs2019628541,2
    --216595888(+) CACTGA/GCCGTA 3 -- int10--------
    rs3722859371,2
    C--216595890(+) CTGGCC/TGTACA 3 -- int10--------
    rs1152399281,2
    C,F--216595961(+) CCTTCC/TGCAAG 6 A syn11Minor allele frequency- T:0.01WA 216
    rs1140402231,2
    C,F--216596029(+) CATCCG/ATGTCC 6 /R /W mis14Minor allele frequency- A:0.00NA WA 5200
    rs1475277251,2
    C,F--216596085(+) CTGGCC/TGCAGT 6 Q R mis11Minor allele frequency- T:0.00NA 4552
    rs1999800141,2
    --216596086(+) TGGCCA/GCAGTA 6 R W mis10--------
    rs2016389861,2
    --216596147(+) CATAGG/TTCGGG 3 -- int10--------
    rs3753098431,2
    C--216596149(+) TAGGTC/TGGGGG 3 -- int10--------
    rs1882602321,2
    --216596196(+) AAAAAC/TCCTCT 3 -- int10--------
    rs1927911121,2
    --216596231(+) CACCTC/TTCACC 3 -- int10--------
    rs2022037811,2
    C--216596400(+) TGGGCA/GGAGGA 3 -- int10--------
    rs2011649241,2
    --216596411(+) AGCCAA/TAATGC 3 -- int10--------
    rs1835081891,2
    C--216596419(+) TGCCTC/TACCTC 3 -- int10--------
    rs2002703321,2
    --216596422(+) CTCACC/GTCAGC 6 D E mis10--------
    rs2012070441,2
    C,F--216596463(+) GCTGGT/GGCCTT 6 /T /P mis11Minor allele frequency- G:0.01EU 719
    rs1429123421,2
    C--216596510(+) CCTGCC/TGCAGG 6 Q R mis11Minor allele frequency- T:0.00NA 4552
    rs22294671,2,,4
    C,F,H--216596511(-) ACCTGA/C/TGGCAG 9 R W syn1 mis113MN NS EA NA EU 6802
    rs1407698231,2
    C,F--216596528(+) CCACAT/CCTTCC 6 /D /G mis12Minor allele frequency- C:0.00NA EU 5867
    rs1387486131,2
    C--216596540(+) CCTGGC/GCCTCC 6 A G mis10--------
    rs2014483671,2
    --216596561(+) CTCGGC/TTCCTG 6 N S mis10--------
    rs3677262021,2
    C--216596584(+) AGCAGA/GGAGAG 3 -- int10--------
    rs2005897591,2
    C--216596609(+) GTGAAC/TAGTGA 3 -- int11Minor allele frequency- T:0.00EU 1127
    rs358648861,2
    C,F--216596658(+) ACACCG/CTTCCC 3 -- int12Minor allele frequency- C:0.50NA 4
    rs20762191,2
    C,F,H--216596678(+) AAAGAG/ACAAGG 3 -- int16Minor allele frequency- A:0.12NS EA NA 652
    rs20762201,2
    C,F,A,H--216596732(+) GCAGAC/TGTGAT 3 -- int126Minor allele frequency- T:0.33NA NS EA WA CSA 2573
    rs1923504941,2
    --216596748(+) TTCCCA/CTTATG 3 -- int10--------
    rs66744611,2
    C,F,H--216596773(+) TGGGCG/AGTTTC 3 -- int15Minor allele frequency- A:0.03NS EA WA 522
    rs20762211,2
    C,F,O,A,H--216596785(+) AATACG/AGAAGA 3 -- int130Minor allele frequency- A:0.41NA NS EA WA CSA 2864
    rs1399940831,2
    --216596817(+) TAACCA/TGCACT 3 -- int10--------
    rs1153070261,2
    C,F--216596902(+) GCAACG/AGGGTT 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1846389161,2
    --216596905(+) ACGGGA/GTTGAG 3 -- int10--------
    rs749548391,2
    C--216596937(+) CTGGGC/TAGAGA 3 -- int12Minor allele frequency- T:0.10CSA WA 120
    rs783035951,2
    C--216596995(+) CAACCG/AGCGGG 6 /R /W mis11Minor allele frequency- A:0.01NA 120
    rs1429845721,2
    C,F--216597003(+) GGGCAC/TGCGCA 6 H R mis12Minor allele frequency- T:0.00NA EU 5819
    rs1431640251,2
    C--216597005(+) GCACGC/TGCAAT 6 A syn10--------
    rs1398297841,2
    C--216597081(+) CATTCA/GTCTTC 6 T M mis11Minor allele frequency- G:0.00NA 4552
    rs20762221,2,,4
    C,F,O,H--216597099(+) CAGTAG/TCTGAG 6 D A mis1 ese325Minor allele frequency- T:0.09EA NA NS EU 10025
    rs1450140901,2
    C--216597130(+) CAGCAC/TGGCCT 6 M V mis11Minor allele frequency- T:0.00NA 4548
    rs2004623901,2
    C--216597131(+) AGCACA/GGCCTC 6 A syn10--------
    rs617534241,2
    C,F--216597153(+) GGATAG/ATGGCT 6 /T /I mis16Minor allele frequency- A:0.03NS WA NA EU 6217
    rs756013971,2
    C--216597188(+) ACAACA/CCGCAT 3 -- int10--------
    rs1998382171,2
    C,F--216597189(+) CAACAC/TGCATT 3 -- int11Minor allele frequency- T:0.01EU 397
    rs1444180811,2
    C--216597220(+) CCTCCA/CCAGAG 3 -- int10--------
    rs1146583151,2
    F--216597230(+) GATACG/AAGGCC 3 -- int11Minor allele frequency- A:0.02WA 118
    rs1894280911,2
    --216597256(+) GCACTC/TGTGGA 3 -- int10--------
    rs1484055301,2
    --216597317(+) CCTTTC/TAACCA 3 -- int10--------
    rs598155771,2
    C,F--216597415(+) GGGTGT/CCGTCA 3 -- int12Minor allele frequency- C:0.15NA EA 240
    rs1425456151,2
    --216597627(+) TGTGCA/CAAGGC 3 -- int10--------
    rs766775811,2
    C--216597724(+) CCTGGA/CCTGTA 3 -- int10--------
    rs1927062181,2
    C--216597742(+) TTATCA/GTCCCT 3 -- int10--------
    rs793568061,2
    F--216597759(+) CTTATC/TTTTCT 3 -- int11Minor allele frequency- T:0.02EA 120
    rs1156371231,2
    C,F--216597814(+) AACTGG/ATTTGT 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1845090791,2
    --216597896(+) AGACCC/TCAGCA 3 -- int10--------
    rs7608341,2
    C,F--216597946(+) AATGAA/TTGATT 3 -- int17Minor allele frequency- T:0.18NA WA EA 366
    rs1896873941,2
    --216597975(+) GATCTC/GTGCTT 3 -- int10--------
    rs730816511,2
    C,F--216598013(+) AGTGGT/CTCCTC 3 -- int13Minor allele frequency- C:0.26WA 122
    rs1812877681,2
    --216598127(+) TCAGAA/GGGTAA 3 -- int10--------
    rs170149051,2
    C,F--216598188(+) TTACAG/TATTTC 3 -- int14Minor allele frequency- T:0.02NA 260
    rs7149711,2
    C,F,A--216598282(-) AGTGAA/GACTGG 3 -- int13Minor allele frequency- G:0.11NA EA 322
    rs1405425671,2
    C--216598404(+) CCCTCA/GGGGCT 3 -- int10--------
    rs1859843871,2
    --216598414(+) TTGCAC/TGCAGC 3 -- int10--------
    rs1891362581,2
    --216598487(+) CCTAAC/TAGAGC 3 -- int10--------
    rs20092921,2
    C,F,H--216598498(-) GAGGTC/TGACGA 3 -- int129Minor allele frequency- T:0.22NA EA NS WA CSA 4097
    rs1455981841,2
    --216598568(+) CCTTCA/CAGGAT 3 -- int10--------
    rs170149061,2
    C,F,H--216598642(+) GGTCAA/GTCGGT 3 -- int121Minor allele frequency- N:0.00NA NS EA 2472
    rs1477441781,2
    --216598692(+) GCTCAA/GTAAAT 3 -- int10--------
    rs1425882961,2
    --216598693(+) CTCAGA/TAAATA 3 -- int10--------
    rs1469062691,2
    C--216598851(+) GCTATC/GATGGC 3 -- int10--------
    rs1169405261,2
    C,F--216598881(+) GCCATC/TTGATA 3 -- int11Minor allele frequency- T:0.03EA 120
    rs22368891,2
    C,F--216598978(+) GGAGAC/TGATCC 3 -- int12Minor allele frequency- T:0.15NA EA 240
    rs1817108321,2
    --216599048(+) CACTCA/GCATGT 3 -- int10--------
    rs1386852971,2
    --216599119(+) ATTAGC/GCTTGA 3 -- int10--------
    rs1489354701,2
    --216599209(+) AAGTGA/GAAGTA 3 -- int10--------
    rs1863729221,2
    --216599218(+) TAATAA/GGAGTA 3 -- int10--------
    rs1921304911,2
    --216599293(+) CTCAGC/TTAGAA 3 -- int10--------
    rs1828216301,2
    --216599357(+) GGCGAC/TGTTTC 3 -- int10--------
    rs10404421,2
    C,F,A--216599398(+) TCCCAC/TACTGT 3 -- int14Minor allele frequency- T:0.16NA WA 124
    rs22368901,2
    C,F--216599429(+) CCAGCG/ACTCAG 3 -- int13Minor allele frequency- A:0.25EA NA 1744
    rs1481232741,2
    --216599676(+) CACCTC/TCCACC 3 -- int10--------
    rs7422551,2
    C,F,A,H--216599723(+) ATGAGT/GGGCCA 3 -- int19Minor allele frequency- G:0.29NA WA CSA EA 373
    rs7422561,2
    C,F,A,H--216599813(+) ATCCAC/TGTTTG 3 -- int119Minor allele frequency- A:0.01EA NA NS WA CSA 1029
    rs1425548371,2
    --216599866(+) GGTGAC/GTGCCT 3 -- int10--------
    rs779544521,2
    C,F--216599947(+) AGGAGG/AGGACT 3 -- int11Minor allele frequency- A:0.05WA 118
    rs1460144171,2
    --216600094(+) CTCTTA/GTTCCT 3 -- int10--------
    rs1860031001,2
    --216600188(+) TTATAA/GAAGCA 3 -- int10--------
    rs125651321,2
    C,F,H--216600200(+) AAGATG/AAGGCA 3 -- int126Minor allele frequency- A:0.27NS EA NA WA CSA 2451
    rs782891571,2
    F--216600235(+) TCACAC/TGAGTC 3 -- int10--------
    rs1418087071,2
    C--216600268(+) TTTCCA/GTTGTA 3 -- int10--------
    rs1912508591,2
    --216600308(+) GGAAGC/GGTGTC 3 -- int10--------
    rs1825730461,2
    --216600407(+) GACAAA/CCATCC 3 -- int10--------
    rs7422571,2
    C,F,A,H--216600473(-) TCACCC/TTCATT 3 -- int121Minor allele frequency- T:0.27NS EA NA WA CSA 2351
    rs1145697641,2
    F--216600610(+) GCAAAT/GAAACA 3 -- int11Minor allele frequency- G:0.10WA 118
    rs1508022321,2
    --216600733(+) TGGGAA/GTTGAG 3 -- int10--------
    rs1871401451,2
    --216600889(+) GCAGAC/TGGGAG 3 -- int10--------
    rs1919920401,2
    C--216600915(+) GCCATA/GGTGCC 3 -- int10--------
    rs120732231,2
    C,F,A--216600959(+) GGGACT/GAGGGA 3 -- int12Minor allele frequency- G:0.15NA EA 240
    rs1165588391,2
    C,F--216601000(+) AATGCG/AGGACA 3 -- int11Minor allele frequency- A:0.03WA 118
    rs2019253761,2
    C--216601032(+) AAGGTA/C/GGGGTG 3 -- int10--------
    rs1154312561,2
    --216601056(+) CCTGTT/CAGGAA 6 /L syn11Minor allele frequency- C:0.01EA 206
    rs31798601,2
    C,F,O,H--216601080(-) CTCCTA/GATCCA 6 L syn1 ese326Minor allele frequency- G:0.11NA NS EA CSA WA EU 7403
    rs2010032371,2
    --216601088(+) GAGCCC/GTGTGC 6 R G mis10--------
    rs1830455891,2
    C--216601093(+) GTGTGC/TGTCTG 6 H R mis10--------
    rs1999463211,2
    --216601121(+) GGAGCA/GGCTGG 6 R C mis10--------
    rs115557281,2
    H--216601148(-) CCCAGC/TGCTTG 6 R C mis1 ese34Minor allele frequency- T:0.00NS EA 406
    rs1483959671,2
    C,F--216601185(+) TCCTCG/AGCTGC 6 /A syn11Minor allele frequency- A:0.00NA 4552
    rs1510063371,2
    C,F--216601189(+) CGGCTA/C/GCCCTA 9 A G V mis12NA EU 5705
    rs1390134611,2
    C--216601210(+) ATACAC/TTCTAG 3 -- int10--------
    rs2019607271,2
    --216601213(+) CACTCC/TAGGTC 3 -- int10--------
    rs2010901591,2
    C--216601240(+) CAAGGG/CAACCT 3 -- int11Minor allele frequency- C:0.00EU 1003
    rs1494665701,2
    --216601251(+) CTCAGC/TAGCCC 3 -- int10--------
    rs37379141,2
    C,F,H--216601259(-) GAATCG/ATGGGG 3 -- int16Minor allele frequency- A:0.00EA NS 1282
    rs800913181,2
    C--216601307(+) CATTTC/GTAACC 3 -- int10--------
    rs37379131,2
    C,F,A,H--216601438(-) TCCCCC/TGGGCA 3 -- int121Minor allele frequency- T:0.33NS EA NA WA CSA 2352
    rs1133399501,2
    C--216601485(+) CGCCTC/TGGCTG 3 -- int13Minor allele frequency- T:0.00CSA WA EU 969
    rs127482501,2,,4
    C,F--216601500(+) TACCAT/ACTGCC 6 /M /L mis120Minor allele frequency- A:0.12NA NS EA CSA WA EU 6005
    rs592603351,2
    C,F--216601512(+) GGTCCG/ACTGGA 6 /R /W mis14Minor allele frequency- A:0.02WA NA 4564
    rs1152795281,2
    C,F--216601651(+) CCAGGG/ACATGA 6 /C syn13Minor allele frequency- A:0.00WA NA EU 6087
    rs1145446921,2
    C--216601657(+) CATGAT/CATTGG 6 /I /M mis11Minor allele frequency- C:0.01WA 216
    rs1477084271,2
    C--216601710(+) GATGGC/TGGTGT 3 -- int10--------
    rs2017625761,2
    C--216601711(+) ATGGCG/AGTGTT 3 -- int11Minor allele frequency- A:0.00EU 1241
    rs609270051,2
    C,F--216601833(+) AGAGCT/CAAGGA 3 -- int12Minor allele frequency- C:0.15NA EA 240
    rs1890134101,2
    --216601892(+) AAGGGC/TCGGGA 3 -- int10--------
    rs1931071901,2
    --216601903(+) TGGCTA/GGGGGA 3 -- int10--------
    rs2003012481,2
    --216601980(+) GCTGGA/GGTGTG 3 -- int10--------
    rs75449761,2
    C--216601981(+) CTGGGG/TTGTGG 3 -- int12Minor allele frequency- T:0.06CSA WA 120
    rs1117247061,2
    C--216602020(+) AGTCAG/CCTTGT 3 -- spd11Minor allele frequency- C:0.00CSA 1
    rs1137455361,2
    C--216602081(+) ACAAGC/TTTGGG 6 K syn12Minor allele frequency- T:0.00NA EU 1501
    rs115557261,2
    C,F--216602093(-) GGCACC/TGGCAG 6 T syn1 ese33Minor allele frequency- T:0.00WA NA 4932
    rs626377101,2
    C,F--216602119(+) CTGCCA/C/GCACCA 9 R G W mis16NS WA NA EU 5917
    rs2020687541,2
    C,F--216602121(+) GCCGCA/CCCAGC 6 G V mis11Minor allele frequency- C:0.03EU 461
    rs1513341481,2
    --216602123(+) CGCACC/TAGCCT 6 L syn10--------
    rs1407204481,2
    C,F--216602177(+) GAGCTG/ATCGGA 6 /D syn11Minor allele frequency- A:0.00NA 4516
    rs1995176931,2
    --216602226(+) TGCTCA/GGCATC 6 P L mis10--------
    rs1141747661,2
    C,F--216602232(+) GCATCC/TGGAAG 6 Q R mis12Minor allele frequency- T:0.00WA NA 4706
    rs1876699251,2
    C--216602261(+) ATGAGA/GAATGG 3 -- int10--------
    rs1404396141,2
    C--216602265(+) GGAATA/GGAGAT 3 -- int10--------
    rs1504140361,2
    C--216602318(+) GCAGTA/GCCCAT 3 -- int10--------
    rs1928463481,2
    C--216602360(+) CCTGAA/CGGATC 6 P syn10--------
    rs1841086711,2
    C--216602368(+) ATCAGA/CACTGC 6 A S mis10--------
    rs20729371,2
    C,F,H--216602369(+) TCAGCA/GCTGCT 6 S syn120Minor allele frequency- G:0.08EA NA NS EU 9085
    rs1157041921,2
    C--216602399(+) CTCTTC/TCTCTG 6 R syn11Minor allele frequency- T:0.01EA 212
    rs1402480401,2
    C,F--216602417(+) GTAAGG/AAGACC 6 /L syn12Minor allele frequency- A:0.00NA EU 5875
    rs1445382101,2
    F--216602422(+) GAGACC/TATTGA 6 S G mis11Minor allele frequency- T:0.00NA 4552
    rs22294661,2,,4
    C,F,O,H--216602424(-) CTTCAA/GTGGTC 6 N S mis1 ese328Minor allele frequency- G:0.06MN NS EA NA EU 9001
    rs1491615891,2
    C,F--216602427(+) CATTGA/GAGCTT 6 S F mis11Minor allele frequency- G:0.00NA 4552
    rs2012231111,2
    C--216602457(+) CTCTCG/AGAAGG 6 /P /L mis11Minor allele frequency- A:0.00EU 1307
    rs1467943921,2
    C--216602515(+) AGTTCG/ACCTGA 6 /R /* stg11Minor allele frequency- A:0.00NA 4532
    rs1887917561,2
    C--216602557(+) AGGGAG/TTTTTG 3 -- int10--------
    rs1452469171,2
    --216602598(+) ACTGCC/TACTGA 3 -- int10--------
    rs20763471,2
    C,F,A,H--216602669(+) GGTTCC/TGCTGG 3 -- int13Minor allele frequency- T:0.24EA NA 1322
    rs760855641,2
    F--216602748(+) CTTGAC/TTTCTA 3 -- int10--------
    rs1847000701,2
    --216602796(+) ATCCTA/GGCTTC 3 -- int10--------
    rs1412741021,2
    --216602803(+) CTTCCA/CTGAGG 3 -- int10--------
    rs1148155931,2
    F--216602804(+) TTCCAT/CGAGGA 3 -- int11Minor allele frequency- C:0.03WA 118
    rs20763481,2
    C,F,A,H--216602836(+) CCTTCG/ACTCTC 3 -- int12Minor allele frequency- A:0.13NA EA 240
    rs1450605361,2
    C--216602887(+) CAAAAA/TCTCTT 3 -- int10--------
    rs747088171,2
    C,F--216602926(+) AGATCC/TCATCA 3 -- int11Minor allele frequency- T:0.06WA 118
    rs1386437371,2
    --216602955(+) CCCCCC/TGAAGG 3 -- int10--------
    rs1417712281,2
    --216602976(+) TCTACC/TTCCCA 3 -- int10--------
    rs749334161,2
    C,F--216603024(+) CCTGTG/ACCCTT 3 -- int11Minor allele frequency- A:0.02NA 120
    rs773251121,2
    C,F--216603099(+) TTGATC/TAGGCA 3 -- int12Minor allele frequency- T:0.05NA EA 240
    rs104893401,2
    C,F,H--216603239(+) ACATGC/AGTCAC 3 -- int113Minor allele frequency- A:0.12NS EA NA 774
    rs1904827631,2
    --216603240(+) CATGCA/GTCACA 3 -- int10--------
    rs120902881,2
    C,F,H--216603326(+) AATATC/TCCCAA 3 -- int18Minor allele frequency- T:0.14EA NS NA 664
    rs1821503431,2
    --216603363(+) AGATGC/TTCTAA 3 -- int10--------
    rs711438891,2
    C--216603453(-) TTTTT-/TTCC  
            
    TTCCT
    3 -- int12Minor allele frequency- TTCC:0.25NA 4
    rs2004696061,2
    --216603491(+) AGGAA-/AAGAAGGA 3 -- int10--------
    rs1395415691,2
    C--216603493(+) GAAAA-/GAAG  
            
    GAAGG
    3 -- int10--------
    rs1859343981,2
    --216603510(+) GAAGGA/TAGGTT 3 -- int10--------
    rs1143629431,2
    F--216603577(+) ACATCG/ATGAGT 3 -- int11Minor allele frequency- A:0.03WA 118
    rs94300071,2
    F,H--216603585(+) AGTCAC/TGGAGC 3 -- int15Minor allele frequency- T:0.00NS EA NA 536
    rs1907097711,2
    --216603837(+) CCAGGG/TTGACT 3 -- int10--------
    rs1809371641,2
    --216603913(+) CTGGAC/TTGTGT 3 -- int10--------
    rs746218051,2
    C,F--216603927(+) GAGGCC/TCAGCT 3 -- int13Minor allele frequency- T:0.08CSA WA 121
    rs94300081,2
    C,F--216603942(+) CCTTCG/AGTGGT 3 -- int16Minor allele frequency- A:0.33NA EA 248
    rs48448601,2
    C,F,A,H--216603995(+) TCTGCA/GAAACC 3 -- int122Minor allele frequency- G:0.25NS EA NA WA CSA 2342
    rs118100231,2
    C,F,H--216604008(+) ACCAGC/TCTCAC 3 -- int13Minor allele frequency- T:0.20WA NA 124
    rs1458417331,2
    C,F--216604272(+) GGATCC/TGGGAG 6 Q R mis12Minor allele frequency- T:0.00NA EU 5703
    rs1426890951,2
    C,F--216604278(+) GGGAGG/ACCAGG 6 /A /V mis11Minor allele frequency- A:0.00NA 4552
    rs2001088851,2
    --216604288(+) GCCACA/GGTCCT 6 R C mis10--------
    rs1505641741,2
    C,F--216604321(+) GCTGGC/TGGTGG 6 T A mis11Minor allele frequency- T:0.00NA 4530
    rs1146511021,2
    C--216604332(+) CATTGC/TGGAGT 6 H R mis11Minor allele frequency- T:0.01EA 198
    rs1395478961,2
    C--216604348(+) AAAGCG/ACAGGG 6 /R /C mis11Minor allele frequency- A:0.00NA 4490
    rs1466478861,2
    C--216604363(+) CTCCCG/AGAGGT 6 /R /W mis11Minor allele frequency- A:0.00NA 4452
    rs1435949881,2
    C--216604370(+) AGGTCC/TGCATC 6 A syn10--------
    rs1433700061,2
    C,F--216604371(+) GGTCCG/ACATCA 6 /A /V mis12Minor allele frequency- A:0.00NA EU 5005
    rs22294651,2
    C,F,O,A,H--216604376(-) ACCTAT/CGATGC 6 /Y syn1 ese337Minor allele frequency- C:0.11MN EA NA NS EU 10211
    rs1854514081,2
    C--216604379(+) TCATAG/TGTCTG 6 T syn10--------
    rs21794021,2
    C,F,O,A,H--216604424(+) CGATTG/ACAGTA 6 /C syn1 ese340Minor allele frequency- A:0.24MN NA NS EA WA CSA EU 8235
    rs2000271001,2
    --216604431(+) AGTAGA/CCTCGC 6 G V mis10--------
    rs2015518051,2
    C--216604435(+) GCCTCA/GCTGGC 6 R * stg10--------
    rs1142749651,2
    C,F--216604463(+) CCGGTC/AAAGCC 6 /L /F mis12Minor allele frequency- A:0.00WA NA 4310
    rs2011546101,2
    C--216604485(+) GGCAGC/TGGCCT 6 H R mis10--------
    rs2003007151,2
    --216604525(+) TCCCCA/GGAAAT 6 R W mis10--------
    rs1417233521,2
    C,F--216604537(+) ACAGTC/TACAGG 6 N D mis11Minor allele frequency- T:0.00NA 2986
    rs1902603281,2
    C--216604615(+) CCTGAA/GGAGGA 3 -- int10--------
    rs1411583541,2
    C--216604616(+) CTGAA-/GAGGAGGT 3 -- int10--------
    rs1827405071,2
    --216604634(+) CTGAGA/GCTCTT 3 -- int10--------
    rs1480710161,2
    --216604712(+) CAAACA/GCTTAC 3 -- int10--------
    rs48448611,2
    C,F,A--216604990(+) CTCCTA/GTGGTG 3 -- int111Minor allele frequency- G:0.22NA WA CSA EA 373
    rs1162335701,2
    F--216605021(+) GAAACG/AACACC 3 -- int11Minor allele frequency- A:0.01WA 118
    rs115893351,2
    C,F,H--216605026(+)