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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XRCC1 Gene

protein-coding   GIFtS: 66
GCID: GC19M044047

X-Ray Repair Complementing Defective Repair In Chinese Hamster...


(Previous symbol: RCC)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells
11 2
RCC1 2
X-Ray Repair Cross-Complementing Protein 12 3
DNA Repair Protein XRCC12

External Ids:    HGNC: 128281   Entrez Gene: 75152   Ensembl: ENSG000000730507   OMIM: 1943605   UniProtKB: P188873   

Export aliases for XRCC1 gene to outside databases

Previous GC identifers: GC19M044692 GC19M044439 GC19M048723 GC19M048739 GC19M040478


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XRCC1 Gene:
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by
exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta
and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA
processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is
associated with cancer in patients of varying radiosensitivity. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC1 Gene: 
XRCC1 (X-ray repair complementing defective repair in Chinese hamster cells 1) is a protein-coding gene. Diseases associated with XRCC1 include bladder cancer susceptibility, and cardia cancer, and among its related super-pathways are Removal of DNA patch containing abasic residue and Cell Cycle / Checkpoint Control. GO annotations related to this gene include damaged DNA binding and protein binding. An important paralog of this gene is LOC100133315.

UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887
Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with
ionizing radiation and alkylating agents

Gene Wiki entry for XRCC1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XRCC1 gene promoter:
         STAT1   STAT1beta   CUTL1   LCR-F1   AP-2gamma   NF-kappaB   COMP1   c-Myb   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): XRCC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for XRCC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XRCC1


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.31   HGNC cytogenetic band: 19q13.2

XRCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M044047:  view genomic region     (about GC identifiers)

Start:
44,047,192 bp from pter      End:
44,084,625 bp from pter
Size:
37,434 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887 (See protein sequence)
Recommended Name: DNA repair protein XRCC1  
Size: 633 amino acids; 69477 Da
Subunit: Homodimer. Interacts with polynucleotide kinase (PNK), DNA polymerase-beta (POLB) and DNA ligase III
(LIG3). Interacts with APTX and APLF. Interacts with APEX1; the interaction is induced by SIRT1 and increases
with the acetylated form of APEX1
Subcellular location: Nucleus. Note=Accumulates at sites of DNA damage
6/8 PDB 3D structures from and Proteopedia for XRCC1 (see all 8):
1CDZ (3D)        1XNA (3D)        1XNT (3D)        2D8M (3D)        2W3O (3D)        3K75 (3D)    
Secondary accessions: Q6IBS4 Q9HCB1

Explore the universe of human proteins at neXtProt for XRCC1: NX_P18887

Explore proteomics data for XRCC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and
    APLF
  • UniProtKB: Sumoylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P18887

  • XRCC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    XRCC1 Protein Expression
    REFSEQ proteins: NP_006288.2  
    ENSEMBL proteins: 
     ENSP00000262887   ENSP00000443671   ENSP00000470391   ENSP00000470045   ENSP00000472128  
     ENSP00000471159  
    Reactome Protein details: P18887
    Human Recombinant Protein Products for XRCC1: 
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    Novus Biologicals XRCC1 Proteins
    Novus Biologicals XRCC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XRCC1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    XRCC1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for XRCC1 
    Cloud-Clone Corp. CLIAs for XRCC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR002706 Xrcc1_N
     IPR001357 BRCT_dom
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry P18887

    ProtoNet protein and cluster: P18887

    2 Blocks protein domains:
    IPB001357 BRCT domain
    IPB002706 DNA-repair protein Xrcc1


    UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887
    Similarity: Contains 2 BRCT domains


    XRCC1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XRCC1_HUMAN, P18887
    Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with
    ionizing radiation and alkylating agents

         Genatlas biochemistry entry for XRCC1:
    repair X-ray defect,complementing defect in CHO cells,1,involved in single-strand DNA break
    rejoining,susceptibility gene for squamous cell carcinoma of the head and neck

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding IEA--
    GO:0005515protein binding IPI14755728
         
    XRCC1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for XRCC1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Xrcc1):
     behavior/neurological  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  normal  tumorigenesis 

    XRCC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Xrcc1tm1Rpe for XRCC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for XRCC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for XRCC1

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for XRCC1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base excision repair0.53
    Base Excision Repair0.89
    2DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    3Base-Excision Repair, AP Site Formation
    Resolution of AP sites via the single-nucleotide replacement pathway0.83
    4Nucleotide Excision Repair
    DNA Repair0.46
    5Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for XRCC1
        Meiosis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for XRCC1
        DNA Repair Mechanisms

    2 Cell Signaling Technology (CST) Pathways for XRCC1
        Cell Cycle / Checkpoint Control
    DNA Damage

    2 BioSystems Pathways for XRCC1
        E2F transcription factor network
    FOXM1 transcription factor network

    4        Reactome Pathways for XRCC1
        DNA Repair
    Base Excision Repair
    Resolution of Abasic Sites (AP sites)
    Resolution of AP sites via the single-nucleotide replacement pathway


    1         Kegg Pathway  (Kegg details for XRCC1):
        Base excision repair


    XRCC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XRCC1

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

    5/58 Interacting proteins for XRCC1 (P188871, 2, 3 ENSP000002628874) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APTXQ7Z2E31, 2, 3, ENSP000004008064EBI-947466,EBI-847814 MINT-2864208 MINT-51181 MINT-51153 MINT-51140 MINT-51142 MINT-51182 MINT-51154 MINT-51139 MINT-2864189 MINT-51230 I2D: score=5 STRING: ENSP00000400806
    CHEK2O960172, 3, ENSP000003720234MINT-7295039 MINT-7294980 MINT-7294997 MINT-7294787 MINT-7295015 MINT-7295027 MINT-7294958 MINT-7294756 I2D: score=1 STRING: ENSP00000372023
    CCNOP226742, 3, ENSP000002825724MINT-7294905 MINT-7294888 I2D: score=1 STRING: ENSP00000282572
    POLIQ9UNA42, 3, ENSP000002178004MINT-7296097 MINT-7296110 I2D: score=1 STRING: ENSP00000217800
    H2AFXP161042, 3, ENSP000003643104MINT-7543857 I2D: score=1 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IEA--
    GO:0001666response to hypoxia IEA--
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006974response to DNA damage stimulus ----

    XRCC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XRCC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XRCC1

    10/48 Novoseek inferred chemical compound relationships for XRCC1 gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 65.7 12 11163244 (3), 19910369 (2), 17650498 (1), 17353262 (1) (see all 8)
    8-oxoguanine 63.6 8 18349297 (1), 12933815 (1), 15927541 (1), 18393249 (1) (see all 7)
    lead chromate 59.8 8 16714390 (3), 16597656 (3)
    vinylchloride 57.1 21 12739102 (4), 12010862 (3), 16881598 (2), 17555083 (2) (see all 7)
    methylmethanesulfonate 51.9 10 15867196 (2), 17603793 (1), 15781218 (1), 11909950 (1) (see all 6)
    mspi 51.1 5 18364571 (1), 19176223 (1), 17418242 (1), 14639127 (1)
    methoxyamine 47.3 1 11585361 (1)
    oxaliplatin 44.2 6 17273745 (2), 15213713 (1), 17009149 (1), 11712813 (1)
    adpribose 41.4 9 14500814 (5), 16963444 (2), 11016934 (1), 12198176 (1)
    gsts 36.4 1 11708327 (1)

    7 PharmGKB related drug/compound annotations for XRCC1 gene    About this table
    Drug/compound PharmGKB Annotation
    Platinum compoundsCA  
    carboplatinCA  
    cisplatinCA  
    cyclophosphamideCA  
    fluorouracilCA  
    oxaliplatinCA  
    platinumCA  

    Search CenterWatch for drugs/clinical trials and news about XRCC1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XRCC1 gene: 
    NM_006297.2  

    Unigene Cluster for XRCC1:

    X-ray repair complementing defective repair in Chinese hamster cells 1
    Hs.98493  [show with all ESTs]
    Unigene Representative Sequence: NM_006297
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262887(uc002owt.2 uc010xwp.1) ENST00000543982 ENST00000597811
    ENST00000595789 ENST00000598422 ENST00000598165 ENST00000599693 ENST00000594107
    ENST00000594511
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XRCC1

    Additional mRNA sequence: 

    AB208781.1 AK293542.1 AK300163.1 AK315332.1 BC023593.2 CR456728.1 

    13 DOTS entries:

    DT.452311  DT.91761768  DT.100773970  DT.100027795  DT.100782706  DT.100782718  DT.100782719  DT.87016286 
    DT.100637811  DT.95107355  DT.121484346  DT.87016288  DT.91724728 

    24/374 AceView cDNA sequences (see all 374):

    BQ896139 AA722476 AK096168 BM831688 CA395701 BQ056064 BM711287 AI983314 
    CR591751 AL520680 BX452522 BM698936 BQ682697 AI206971 CR614880 AA402560 
    BX091022 BQ882089 BM831569 AW002217 AK128554 CR610347 AF322648 AI424752 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for XRCC1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XRCC1 expression in normal human tissues (normalized intensities)      XRCC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGGCCAG
    XRCC1 Expression
    About this image


    XRCC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See XRCC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XRCC1

    SOURCE GeneReport for Unigene cluster: Hs.98493
        SABiosciences Expression via Pathway-Focused PCR Arrays including XRCC1: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    OriGene qSTAR qPCR primer pairs in human, mouse for XRCC1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat XRCC1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XRCC1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XRCC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for XRCC1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc11 , 5 X-ray repair complementing defective repair in Chinese more1, 5 84.79(n)1
    86.49(a)1
      7 (11.42 cM)5
    225941  NM_009532.41  NP_033558.31 
     245471505 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    53(a)
    1 → many
    LGf(1127269-1140959)
    African clawed frog
    (Xenopus laevis)
    Amphibia xrcc1-prov2 x-ray repair cross-complementing group 1 protein 76.58(n)    BC045032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xrcc11 X-ray repair complementing defective repair in Chinese more 58.35(n)
    55.28(a)
      445480  NM_001003988.1  NP_001003988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta XRCC13 nucleotide-excision repair 40(a)   4F5   --


    ENSEMBL Gene Tree for XRCC1 (if available)
    TreeFam Gene Tree for XRCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for XRCC1 gene
    LOC1001333152  ENSG000002683612  

    XRCC1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887
    Polymorphism: Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA
    damage


    710/898 SNPs in XRCC1 are shown (see all 898)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362774
    A colorectal cancer sample4--see VAR_0362772 R W mis40--------
    VAR_0617274
    ----see VAR_0617272 N Y mis40--------
    VAR_0147734
    ----see VAR_0147732 R L mis40--------
    VAR_0147744
    ----see VAR_0147742 V M mis40--------
    rs455921421,2
    C--40478190(+) TGTGT-/GTGTGT
    GTGTGTGT
    ATAGC
    1 -- cds10--------
    rs126097701,2
    C,H--44047004(+) CAATCA/GCCTCA 1 -- ds50012Minor allele frequency- G:0.00NA 4
    rs1847934601,2
    --44047027(+) ATGTGG/TTGGAG 1 -- ds50010--------
    rs1895263581,2
    --44047218(+) AGCCTA/CATGGG 1 -- ds50010--------
    rs1415786561,2
    --44047231(+) CCAGG-/CCCTCC 1 -- ds50010--------
    rs32134011,2
    C,F--44047312(-) GAACTGGGA    
       ATC
    /-
    TGACC
    1 -- ds50011Minor allele frequency- -:0.14NS 178
    rs1425717171,2
    C--44047314(+) TCAGA-/TT    
       CCCAG
    TTCCC
    1 -- ds50010--------
    rs26825581,2
    C,F--44047316(-) ACTGGG/AAATCT 1 -- ds50014Minor allele frequency- A:0.10NS WA NA 178
    rs1473053871,2
    --44047364(+) CAGAAA/GAGACA 1 -- ds50010--------
    rs1409911091,2
    C--44047399(+) CTGACA/GGAGGT 1 -- ds50010--------
    rs1926145201,2
    C--44047418(+) TTCTTC/TCCCAG 1 -- ds50010--------
    rs1417186221,2
    C--44047493(+) GCATC-/GTGTGTG 1 -- ut310--------
    rs724842431,2
    C--44047494(+) TGTGT-/GTGT  
            
    GTGTG
    1 -- ut310--------
    rs23071721,2
    C,F--44047516(-) ACACAA/C/GACACA 2 -- ut311NA 848
    rs23071691,2
    F--44047532(-) TGCTaTA/-acaca 2 -- ut311Minor allele frequency- -:0.00NA 848
    rs35471,2
    C,F--44047550(+) CAGGCC/TTGCGG 2 Q syn123Minor allele frequency- T:0.35NA MN WA EA CSA EU 8306
    rs2019677121,2
    C--44047554(+) CTTGCA/GGCACC 2 P L mis10--------
    rs1998762051,2
    --44047624(+) GGGACA/GAACGA 2 R C mis10--------
    rs2017611081,2
    --44047660(+) GGCCTA/GCAGGG 1 -- int10--------
    rs1842156431,2
    C--44047684(+) ATACGA/GGAATG 1 -- int10--------
    rs1896348831,2
    C--44047696(+) GTCATC/GGAGGG 1 -- int10--------
    rs32134001,2
    C,F--44047697(-) CCCCTC/TGATGA 1 -- int1 trp36Minor allele frequency- T:0.01NS MN 580
    rs32133991,2
    C--44047707(-) CCTCCG/ATCCTC 1 -- int11Minor allele frequency- A:0.01NS 170
    rs1448683541,2
    C--44047723(+) CAAAGG/TTGTGC 1 -- int10--------
    rs32133981,2
    C--44047731(-) AGACCC/TGGGCA 1 -- int11Minor allele frequency- T:0.01NS 162
    rs1486113401,2
    C--44047773(+) TCAAAC/GCTGGG 2 S R mis10--------
    rs23071771,2,4
    C,F--44047825(-) GGACWA/CTATGA 2 Y S mis117Minor allele frequency- C:0.02NA NS MN WA EU 8045
    rs2000535441,2
    --44047833(+) TCCTCA/GAGCTC 2 L syn10--------
    rs23071821,2
    C,F--44047839(-) GCCAGG/AGAGCT 2 /G syn12Minor allele frequency- A:0.00NA 5378
    rs2017168461,2
    C--44047872(+) AGGCAC/TATCAG 1 -- int10--------
    rs1163885171,2
    F--44047893(+) CTGACG/ATCCTA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs32133971,2
    C,F--44047900(-) TGGGGA/TGTAGG 1 -- int11Minor allele frequency- T:0.01NS 150
    rs1995562341,2
    C--44047992(+) ATCTTC/GCCACA 1 -- int10--------
    rs1466882731,2
    --44048088(+) CAGAAG/TAGGAA 1 -- int10--------
    rs3723325521,2
    C--44048246(+) TGAGCA/GTTCCC 1 -- int10--------
    rs23071811,2
    C,F--44048322(-) AAACTC/GATCCG 2 L syn1 ese32Minor allele frequency- G:0.00NA NS 1004
    rs23071661,2,4
    C,F--44048330(-) AGCGGC/TGGAAA 2 R W mis1 ese34Minor allele frequency- T:0.00NA 5382
    rs23071671,2,4
    C,F,H--44048332(-) CGAGCG/AGCGGA 2 /Q /R mis1 ese310Minor allele frequency- A:0.00NA NS EA 6158
    rs1997485211,2
    C--44048333(+) CCGCCG/ACTCGT 2 /R /W mis11Minor allele frequency- A:0.00EU 1089
    rs2004343851,2
    --44048417(+) AAGCAG/TGAGGC 1 -- int10--------
    rs1402998221,2
    --44048615(+) TTATTA/GTGATT 1 -- int10--------
    rs1454153941,2
    --44048660(+) TCTCTC/GTCTCT 1 -- int10--------
    rs730436961,2
    C--44048671(+) TTTTTG/TTTTTT 1 -- int10--------
    rs1815976971,2
    --44048697(+) TCTGTC/TGCCCA 1 -- int10--------
    rs104135581,2
    C,F--44048801(+) ctacaG/Cgtgca 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs1137680281,2
    C,F--44048946(+) TAGCAC/TACCAC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1181332341,2
    C,F--44048954(+) CACCAC/TGCTCG 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1860118031,2
    --44048959(+) CGCTCA/GGCTAA 1 -- int10--------
    rs1908070921,2
    --44048986(+) TAAAGG/TCGGGG 1 -- int10--------
    rs1138707561,2
    C--44048992(+) GGGGGT/-TCGGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs2008922211,2
    --44048993(+) GGGGT-/TGCGGGG 1 -- int10--------
    rs26825561,2
    C,F,A,H--44048994(-) CCCCCG/AACCCC 1 -- int117Minor allele frequency- A:0.28NS EA NA WA CSA 1792
    rs106646581,2
    C--44048994(+) ggggg-/G/GG  
            
    tctca
    1 -- int11NA 2
    rs3680614531,2
    C--44048994(+) GGGTT-/C/G   
       
    /T/TG
    GGGGG
    1 -- int10--------
    rs1859226871,2
    --44049058(+) TCCCAC/TCTCGG 1 -- int10--------
    rs1501654471,2
    --44049074(+) CAAAGC/TACGGG 1 -- int10--------
    rs14759331,2
    C,F,A,H--44049077(-) CACCCC/TGTACT 1 -- int112Minor allele frequency- T:0.27NS NA WA CSA EA 536
    rs1910721441,2
    --44049128(+) TAGTCC/TAGGCT 1 -- int10--------
    rs32133961,2
    C,F--44049140(-) ACTGAC/TGTTTT 1 -- int15Minor allele frequency- T:0.07NS CSA WA NA EA 538
    rs32133951,2
    C,F,H--44049313(-) TCCTCG/ATGGGT 1 -- int119Minor allele frequency- A:0.06NS EA NA CSA WA 2520
    rs1827807021,2
    --44049347(+) GAAGCC/TCCAGA 1 -- int10--------
    rs1141853431,2
    F--44049356(+) GAACCA/GCACCT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs32133941,2
    C,H--44049371(-) TCACGG/AGCTGT 1 -- int17Minor allele frequency- A:0.00NS EA NA 570
    rs1883452541,2
    --44049403(+) CATTCA/TCGAAG 1 -- int10--------
    rs32133921,2
    C,F--44049526(-) CTGGAC/TGTGGA 1 -- int11Minor allele frequency- T:0.01NS 180
    rs32133911,2
    C,F,H--44049531(-) TCACTC/GTGGAC 1 -- int113Minor allele frequency- G:0.07NS NA 930
    rs1386693661,2
    --44049569(+) TGCACC/TCACCC 1 -- int10--------
    rs1829796671,2
    --44049596(+) CAGTGC/TCCCTG 1 -- int10--------
    rs1876029111,2
    --44049640(+) CAGAAA/CGGCAC 1 -- int10--------
    rs1493458481,2
    C--44049692(+) CCTGAC/TGTGAA 1 -- int10--------
    rs1925020881,2
    --44049726(+) ATGGCC/TGCGAG 1 -- int10--------
    rs32133901,2
    C,F--44049846(-) CCTCAA/GCCCAC 1 -- int13Minor allele frequency- G:0.03NS CSA WA 296
    rs1858402691,2
    --44049847(+) TGGGTC/TGAGGA 1 -- int10--------
    rs254781,2
    C,F--44049861(-) GCCTCC/ACCTCT 1 -- int1 trp310Minor allele frequency- A:0.13NS MN WA NA EA 1006
    rs254771,2
    F--44049874(-) GCCCCC/TGTGTC 1 -- int16Minor allele frequency- T:0.01MN 476
    rs254761,2
    C,F--44049881(-) CACTGC/ATGCCC 1 -- int17Minor allele frequency- A:0.05MN NA 596
    rs1383684701,2
    C--44049920(+) GCTGAG/AAACTG 1 -- int11Minor allele frequency- A:0.00EU 1323
    rs254751,2
    C--44049947(-) CCCTCC/TTGAAG 1 -- int11Minor allele frequency- T:0.01--72
    rs1998074371,2
    --44049954(+) AGGGAC/TGGGGG 1 -- int10--------
    rs2014188931,2
    --44049955(+) GGGATC/GGGGGG 1 -- int10--------
    rs2006554511,2
    --44049967(+) TTTCCC/GACCTG 1 -- int10--------
    rs2000703391,2
    --44049969(+) TCCCAC/TCTGGG 1 -- spd10--------
    rs415618171,2
    C--44050009(-) AGGAAC/TACCAG 2 H Y mis10--------
    rs2014525761,2
    C--44050049(+) GCATAC/TGGGTC 2 P syn10--------
    rs254741,2,4
    C,F,H--44050050(-) AGACCC/TGTATG 2 P L mis1 ese311Minor allele frequency- T:0.00MN NS EA NA 5478
    rs1472889861,2
    C--44050124(+) CCAAGA/TGGAGT 1 -- int10--------
    rs254801,2
    C,F,H--44050156(-) GTAGGG/AGAGGC 1 -- int110Minor allele frequency- A:0.02NA NS MN EA EU 3119
    rs725542031,2
    C,F--44050158(-) GTGTAG/CGRGAG 1 -- int16Minor allele frequency- C:0.00MN EU 1723
    rs254791,2
    C,F,A--44050195(-) GGGCTG/AGGGCT 1 -- int129Minor allele frequency- A:0.33EA NA NS MN WA CSA EU 3855
    rs725542041,2
    F--44050214(-) AGGATG/AAGCTG 2 /K /E mis15Minor allele frequency- A:0.01MN 400
    rs23071841,2,4
    C,F,H--44050231(-) AGATTC/ATGGGG 2 /Y /S mis110Minor allele frequency- A:0.00NA NS EA 6430
    rs2009779951,2
    C--44050285(+) ATGCAA/CGGCTG 1 -- int10--------
    rs2000346331,2
    --44050295(+) GCCTTC/GTCTCC 1 -- int10--------
    rs23071901,2
    C--44050304(-) GTCTTC/TCCAGG 1 -- int11Minor allele frequency- T:0.00NA 798
    rs1927631071,2
    --44050382(+) CCAGTC/TGTCTG 1 -- int10--------
    rs32133891,2
    C,F--44050578(-) aggggC/Gtgggg 1 -- int11Minor allele frequency- G:0.05NS 166
    rs3765401341,2
    C--44050770(+) TGTCTA/GTATCT 2 T I mis10--------
    rs2022415011,2
    --44050921(+) ACAGTA/GTGGGT 1 -- int10--------
    rs254841,2
    C,F,A,H--44050966(-) CCCCAA/GACTTC 1 -- int128Minor allele frequency- G:0.14NS MN NA WA 3286
    rs254831,2
    C,F--44050981(-) GAGTCC/TGCTGT 1 -- int16Minor allele frequency- T:0.02MN 480
    rs2012630841,2
    --44050999(+) CCTCCC/TACTAC 1 -- int10--------
    rs725614641,2
    C,F--44051004(-) AGGGTG/ATAGTG 1 -- int16Minor allele frequency- A:0.01MN WA 526
    rs1997616941,2
    C--44051043(+) TCTGAG/AGAAGC 2 /P /L mis11Minor allele frequency- A:0.00EU 1321
    rs22930351,2
    C--44051075(+) CCACCA/GCTGTG 2 S syn1 ese30--------
    rs23071791,2
    C--44051108(-) CCAGGT/ATCCAG 2 /G syn11Minor allele frequency- A:0.00NA 852
    rs254821,2
    C,F--44051163(-) CCTTGG/TGCCTG 1 -- int17Minor allele frequency- T:0.01NS MN 638
    rs1846207251,2
    --44051183(+) AGGGCA/GTTCAG 1 -- int10--------
    rs1884960671,2
    --44051221(+) AATACC/TCACTC 1 -- int10--------
    rs1176497201,2
    C,F--44051239(+) CCTCAT/GGGTCT 1 -- int11Minor allele frequency- G:0.02NA 120
    rs113158711,2
    C--44051348(+) CCCTC-/TTTTTT 1 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs735546961,2
    C,F--44051378(+) TCCATC/TGCCAG 1 -- int13Minor allele frequency- T:0.08WA CSA 121
    rs1496589041,2
    --44051477(+) GGATTA/GCAGGT 1 -- int10--------
    rs48021861,2
    C,F--44051499(+) TGCCCC/TGCCAA 1 -- int13Minor allele frequency- T:0.10WA NA EA 358
    rs81012001,2
    C,A,H--44051558(+) GTCTCG/AATCTC 1 -- int12Minor allele frequency- A:0.25NA 4
    rs763844391,2
    C,F--44051584(+) GCCCCC/TGTCAG 1 -- int13Minor allele frequency- T:0.15WA NA EA 358
    rs711692601,2
    C--44051651(+) TTTTT-/TAGACA 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs1812840111,2
    --44051736(+) TCGAGA/CGAGTC 1 -- int10--------
    rs32133881,2
    C,F--44051769(-) gtaatC/Tgcagt 1 -- int11Minor allele frequency- T:0.02NS 168
    rs1858573681,2
    --44051942(+) CCACAA/GTACCC 1 -- int10--------
    rs1890993341,2
    --44051969(+) TTGGGA/GAAGAA 1 -- int10--------
    rs744014481,2
    C,F--44052026(+) AGAATC/TAAAGG 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1440437151,2
    --44052054(+) AATACC/GCACCA 1 -- int10--------
    rs1819512151,2
    --44052112(+) TATAAC/TCATGG 1 -- int10--------
    rs1873901921,2
    --44052220(+) GTCGGC/GGGGGA 1 -- int10--------
    rs133449311,2
    C--44052246(+) gccccA/Gtccgg 1 -- int10--------
    rs133449471,2
    C--44052249(+) ccatcC/Ggggag 1 -- int10--------
    rs621157541,2
    C--44052365(+) TGCCCA/GGCCGC 1 -- int10--------
    rs1490825241,2
    C--44052616(+) ATCTAC/TGACCT 1 -- int10--------
    rs32133861,2
    C--44052714(-) caagcA/Ctctgt 1 -- int11Minor allele frequency- C:0.01NS 170
    rs32133851,2
    C,F--44052843(-) GCAGAT/CAAACA 1 -- int11Minor allele frequency- C:0.11NS 168
    rs32133841,2
    C,F--44052896(-) tctcaC/Tagagg 1 -- int11Minor allele frequency- T:0.01NS 168
    rs759423741,2
    C--44052936(+) AAAAAA/CAACAC 1 -- int10--------
    rs1145553881,2
    C,F--44052961(+) GACACT/GTACAT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs771778881,2
    F--44053100(+) AGCCAC/AAGGGA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs32133831,2
    C,F,H--44053108(-) GCATAC/ACTTCC 1 -- int117Minor allele frequency- A:0.01NS EA NA CSA WA 1818
    rs32133821,2
    C,F--44053360(-) CCTAAA/C/TAAGCA 1 -- int16NS NA WA EA 414
    rs1829021731,2
    --44053494(+) TCAACC/TCCTTC 1 -- int10--------
    rs28545021,2
    C,F--44053542(-) CCCAGC/TTACTC 1 -- int15Minor allele frequency- T:0.11NS NA WA 180
    rs32133801,2
    C,F--44053554(-) cacacC/Ttgtag 1 -- int11Minor allele frequency- T:0.03NS 142
    rs1438904731,2
    C--44053563(+) TGCGCC/TACCAT 1 -- int10--------
    rs1465469311,2
    C--44053746(+) ATTTGC/GCACCT 1 -- int10--------
    rs1860796291,2
    --44053843(+) ATCTAC/TGACTA 1 -- int10--------
    rs32133781,2
    C,F,H--44053889(-) CTACAA/GAACAT 1 -- int13Minor allele frequency- G:0.13NS WA EA 418
    rs32133771,2
    C,F--44053896(-) CCCAT-/GAGAC 
            
    CCCTA
    1 -- int11Minor allele frequency- GAGAC:0.12NS 180
    rs32133761,2
    C,F,H--44053917(-) ATGCAG/CGCAAC 1 -- int17Minor allele frequency- C:0.06NS EA NA 838
    rs1129406461,2
    C--44053932(+) AGTTAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs32133751,2
    F--44053939(-) ACTAAA/GAAAAA 1 -- int11Minor allele frequency- G:0.01NS 178
    rs1901582471,2
    --44054030(+) AACACC/TGTTTG 1 -- int10--------
    rs1828371301,2
    --44054355(+) TAAACC/TCCCAG 1 -- int10--------
    rs32133741,2
    C,F,H--44054387(-) ggtttG/Catcat 1 -- int114Minor allele frequency- C:0.02NS EA CSA WA 1314
    rs344501151,2
    C--44054437(+) GGGAT-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1874864921,2
    C--44054488(+) TGCAGC/GGAAAT 1 -- int10--------
    rs591825521,2
    --44054493(+) CGAAAC/TGAGTT 1 -- int10--------
    rs2014504261,2
    C--44054578(+) GAAGC-/GCATGG 1 -- int10--------
    rs118825541,2
    C,H--44054894(+) CTGACA/CTTGTC 1 -- int11Minor allele frequency- C:0.00NA 2
    rs32133721,2
    C,F--44054978(-) TGGCCC/TGCAGA 1 -- int12Minor allele frequency- T:0.01NS NA 292
    rs32133711,2
    C,F,H--44055058(-) ATTGAG/CCCCTG 1 -- int122Minor allele frequency- C:0.06NS EA NA CSA 2714
    rs32133701,2
    C,F--44055245(-) TTACTC/TGGAAG 1 -- int14Minor allele frequency- T:0.11NS NA 288
    rs1493999431,2
    --44055267(+) GGCGTA/GCGCCA 1 -- int10--------
    rs1906686721,2
    --44055268(+) GCGTGC/TGCCAC 1 -- int10--------
    rs104196621,2
    C--44055411(+) cactgC/Taccgg 1 -- int10--------
    rs1176007341,2
    F--44055464(+) TCCCAC/GCCCTG 1 -- int11Minor allele frequency- G:0.01NA 120
    rs32133691,2
    C,F--44055565(-) GTACTC/TCAGAT 1 -- int12Minor allele frequency- T:0.02NS NA 292
    rs21397201,2
    C,F,A--44055582(+) CCCTGC/TCCCGC 1 -- int19Minor allele frequency- T:0.16NS NA WA CSA EA 540
    rs791287321,2
    C,F--44055635(+) TTCTCC/TGCTGG 1 -- int11Minor allele frequency- T:0.02NA 120
    rs32133681,2
    C,F--44055644(-) TGGGGC/TCTGCC 1 -- int111Minor allele frequency- T:0.11NS WA NA EA EU 1361
    rs1837447331,2
    --44055660(+) ACTCCC/TCTCCA 1 -- int10--------
    rs560690741,2
    C--44055709(+) TTGGCA/GTGTGA 1 -- int10--------
    rs254871,2,4
    C,F,H--44055726(-) CTCCCG/AGAGGT 2 /Q /R mis136Minor allele frequency- A:0.29NA NS MN EA WA CSA EU 9695
    rs1997390761,2
    C--44055727(+) CCTCTA/GGGAGG 2 Q * stg10--------
    rs2013370511,2
    --44055733(+) GGAGGG/TCAGCC 2 T P mis10--------
    rs2008424821,2
    --44055744(+) GCCGAC/TGCATG 2 H R mis10--------
    rs1996138431,2
    --44055761(+) CAGTCC/TAGCAC 2 L syn10--------
    rs2016070781,2
    --44055768(+) GCACCC/TACTCC 2 * W stg10--------
    rs1464436341,2
    C--44055777(+) CCTTAC/TGCACG 2 H R mis11Minor allele frequency- T:0.00NA 4550
    rs22719801,2
    H--44055781(+) ACGCAC/TGATGC 2 M V mis14Minor allele frequency- T:0.00NS EA 414
    rs2011858391,2
    --44055843(+) AGCTGC/GTGGGG 1 -- int10--------
    rs557499511,2
    C--44055844(+) CTGGT-/GGGGGG 1 -- int10--------
    rs254861,2
    C,F,A,H--44055898(-) GTCTCA/GTTCCC 1 -- int135Minor allele frequency- G:0.29NS EA MN NA WA CSA EU 5423
    rs2005093931,2
    C--44055918(+) AGACAA/GAGAGA 1 -- int10--------
    rs2018873461,2
    C--44055920(+) ACAGAC/G/TAGAGA 1 -- int10--------
    rs765600471,2
    C--44055935(+) GACAGA/GCAGAC 1 -- int10--------
    rs1998138371,2
    C--44055943(-) ATCTGG/TCTGTC 1 -- int10--------
    rs1388960411,2
    C--44056010(+) AAATC-/AGAG  
            
    AGAAG
    1 -- int10--------
    rs32133671,2
    C,F,H--44056025(-) TGTAGC/GCTTTG 1 -- int113Minor allele frequency- G:0.01NS EA NA CSA WA 1556
    rs254851,2
    C,F,A--44056052(-) TCACTT/CGCTTT 1 -- int117Minor allele frequency- C:0.25NA EA NS MN WA CSA 2612
    rs254931,2
    C,F--44056106(-) TCCTCC/TACCTT 1 -- int19Minor allele frequency- T:0.01NS MN 1078
    rs1891203071,2
    --44056141(+) TGCAGC/TGGCGC 1 -- int10--------
    rs254921,2
    C,F--44056153(-) GCCCCC/GCTCCC 1 -- int1 trp33Minor allele frequency- G:0.01NA NS 1078
    rs2019540681,2
    C--44056243(+) AGCTCG/AGAGCG 2 /S syn11Minor allele frequency- A:0.00EU 1251
    rs23071731,2
    C,F--44056273(-) GTGGTG/TCTGAG 2 V syn16Minor allele frequency- T:0.00NA MN 1248
    rs254911,2,4
    C,F,H--44056326(-) GACGAC/TCCCGA 2 P S mis1 ese320Minor allele frequency- T:0.00NA NS MN EA EU 8657
    rs2008949671,2
    --44056329(+) GGGTCA/GTCTGG 2 R * stg10--------
    rs254901,2,4
    C,F,H--44056341(-) AAGGCA/GCCGAG 2 T A mis118Minor allele frequency- G:0.03NS MN EA NA WA EU 7199
    rs32133661,2
    C,F--44056351(-) CCCCGA/GGGAGA 2 R syn1 ese3 trp32Minor allele frequency- G:0.01NS NA 4702
    rs2005286011,2
    C--44056352(+) CTCCTC/TGGGGT 2 Q R mis10--------
    rs23071881,2,4
    C,F--44056357(-) GGCAAA/CCCCCG 2 K N mis1 ese38Minor allele frequency- C:0.00NA MN 5732
    rs2012961381,2
    --44056372(+) ACTGCA/CCCCTG 2 G syn10--------
    rs1461686621,2
    C,F--44056400(+) GGGCTG/ATGGCT 2 /T /I mis11Minor allele frequency- A:0.00NA 3718
    rs254891,2,4
    C,F,H--44056412(-) AACTCG/ATACCC 2 /H /R mis1 ese329Minor allele frequency- A:0.05MN NA NS EA CSA 7364
    rs1843752511,2
    --44056693(+) TCCAGA/GCCCCC 1 -- int10--------
    rs32133631,2
    C,F,A,H--44056788(-) GAATCC/TGAGGG 1 -- int16Minor allele frequency- T:0.36NS NA CSA WA EA 531
    rs1439172861,2
    C,F--44056954(+) ATTTAG/AGTCTC 2 /P /L mis12Minor allele frequency- A:0.00NA EU 5873
    rs1472827581,2
    C,F--44056977(+) GGCGAC/TAGCTG 2 L syn12Minor allele frequency- T:0.00NA EU 5875
    rs2005750881,2
    --44057010(+) TTCTTC/TTCTTC 2 E syn10--------
    rs23071761,2
    C,F--44057118(-) CAGACT/ATTGGT 1 -- int12Minor allele frequency- A:0.00NA NS 1014
    rs23071751,2
    C,F--44057119(-) TCAGAC/TTTTGG 1 -- int12Minor allele frequency- T:0.01NA NS 1014
    rs1840282311,2
    C--44057129(+) ATGATC/TTCACC 1 -- int10--------
    rs9159271,2
    C,F,A--44057227(-) GACCCA/C/G/
            
    GCAGG
    4 P syn1 ese324MN NA NS EA WA CSA 7371
    rs32133611,2
    C--44057247(-) CCTTCA/TTAGTC 1 -- int11Minor allele frequency- T:0.01NS 178
    rs32133601,2
    C--44057253(-) TTTCTC/GCCTTC 1 -- int1 trp31Minor allele frequency- G:0.01NS 180
    rs17997801,2
    C,F--44057276(-) CAGCCC/TTCTCA 1 -- int18Minor allele frequency- T:0.07NS MN NA EA CSA 2096
    rs1887616311,2
    --44057300(+) TTTCAA/CTCCTA 1 -- int10--------
    rs1158439291,2
    F--44057343(+) CACCAG/ATGATC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs9090081,2
    C,F--44057349(+) TGATCC/GAGGag 1 -- int19Minor allele frequency- G:0.03NS WA 898
    rs747629621,2
    C--44057518(+) TCAACA/CCTACT 1 -- int10--------
    rs17997791,2
    C,F--44057528(-) GTCCTG/AAGTGA 1 -- int19Minor allele frequency- A:0.00NA MN 1332
    rs64134301,2
    F--44057537(-) ACAAcG/Atgggt 1 -- int15Minor allele frequency- A:0.01MN 404
    rs1820589041,2
    C--44057538(+) CCCACA/GTTGTC 1 -- int10--------
    rs23071921,2
    C,F--44057557(-) ACATCC/TCCAGG 2 S syn1 ese38Minor allele frequency- T:0.00NA MN EU 7090
    rs17997821,2,4
    C,F--44057574(-) TCAGCC/TGGATC 2 R W mis1 ese327Minor allele frequency- T:0.09MN NA NS EA WA EU 9022
    rs23071701,2
    C,F--44057584(-) GCTCTC/GTTCTT 2 L syn1 trp39Minor allele frequency- G:0.00NA NS MN EU 7269
    rs563577891,2
    C--44057606(+) GAGAGC/TTGGCG 2 N S mis10--------
    rs1905631091,2
    C--44057610(+) GTTGGC/TGCTCT 2 T A mis10--------
    rs1440090771,2
    C--44057719(+) GTGGAG/AAGGCA 1 -- int11Minor allele frequency- A:0.00EU 593
    rs1491879251,2
    C,F--44057767(+) TGGGAC/TGGGGC 2 P syn12Minor allele frequency- T:0.00NA EU 5789
    rs23071911,2,4
    C,F,H--44057768(-) GGCCCC/TGTCCC 2 P L mis1 ese311Minor allele frequency- T:0.01NA NS EA 6626
    rs23071681,2
    C,F--44057776(-) GAGGCA/TGAGGC 2 A syn1 ese32Minor allele frequency- T:0.00NA 5340
    rs23071801,2,4
    C,F,H--44057781(-) AAGATG/AAGGCA 2 /K /E mis1 ese37Minor allele frequency- A:0.00NA EA NS 1268
    rs32133581,2
    C,F,H--44057911(-) GTTTCC/ACTGAG 1 -- int111Minor allele frequency- A:0.01NS EA NA CSA WA 1392
    rs7314201,2
    C,F,O,A,H--44057972(-) ACCATC/TGCCAG 1 -- int132Minor allele frequency- T:0.09NA EA MN NS WA 5124
    rs32133571,2
    C,F,H--44057987(-) CCTATA/CATTGT 1 -- int113Minor allele frequency- C:0.02NS EA NA CSA WA 1494
    rs22930361,2
    C,F,O,H--44058048(+) TTCACA/GCATTA 1 -- int131Minor allele frequency- T:0.01NS EA NA WA 3580
    rs7625071,2
    C,F,O,A,H--44058098(-) CAGTGA/GATTCG 1 -- int136Minor allele frequency- T:0.00EA NA NS WA CSA 4540
    rs1395297511,2
    --44058148(+) GCTGCA/GTGCCA 1 -- int10--------
    rs1497123401,2
    --44058182(+) AGGCTC/GTCTCC 1 -- int10--------
    rs32133561,2
    C,F,H--44058239(-) AGGTCA/GTGCAG 1 -- int126Minor allele frequency- G:0.30NS EA NA CSA WA 2933
    rs32133551,2
    C,F--44058384(-) CAGGGT/CTGCTG 1 -- int19Minor allele frequency- C:0.01NS CSA WA 946
    rs1455742461,2
    --44058428(+) AGTCAC/TTTGCC 1 -- int10--------
    rs1488931571,2
    --44058460(+) TGGTAC/TAGCCA 1 -- int10--------
    rs1128817891,2
    C,F--44058488(+) TCAGAC/TGCCAG 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs81080871,2
    C,F,H--44058489(+) cagacG/Accaga 1 -- int111Minor allele frequency- A:0.04NS EA NA WA 1304
    rs2020061681,2
    C--44058790(+) CCACCC/TTAGGT 1 -- int10--------
    rs1998548031,2
    --44058833(+) GACCCA/GGTCCC 2 R W mis10--------
    rs1382840811,2
    C,F--44058851(+) CTCGGC/TGGCTG 2 T A mis11Minor allele frequency- T:0.00NA 4548
    rs1438818451,2
    C,F--44058860(+) TGCCCG/AGACCA 2 /R /W mis11Minor allele frequency- A:0.00NA 4550
    rs22284871,2,4
    C,F--44058892(-) CAACCG/ACGTTC 2 /H /R mis17Minor allele frequency- A:0.00MN NA 4746
    rs2003765941,2
    C--44058921(+) CTCTCA/C/GGAAGG 3 S syn10--------
    rs254941,2
    F,H--44059082(-) CTAGGC/GCCAAG 1 -- int15Minor allele frequency- G:0.01NS EA 426
    rs17997781,2
    C,F,H--44059141(-) TGGGGC/ACTGTG 1 -- int128Minor allele frequency- A:0.29EA NS MN NA CSA WA 4454
    rs72579781,2
    H--44059230(+) GCGGGC/GTACAT 1 -- int14Minor allele frequency- G:0.00NS EA 420
    rs1163710141,2
    F--44059232(+) GGGCTA/GCATGT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs32133541,2
    C,F,H--44059258(-) ATTCTC/TTGCCG 1 -- int17Minor allele frequency- T:0.01NS EA NA 706
    rs32133531,2
    C,F,H--44059278(-) ATTGTG/ACCAGT 1 -- int18Minor allele frequency- A:0.01NS EA NA 782
    rs32133521,2
    C,H--44059322(-) CCTTTC/TCGCTG 1 -- int16Minor allele frequency- T:0.00NS EA NA 600
    rs32133511,2
    C,H--44059325(-) TTGCCT/CTTCCG 1 -- int16Minor allele frequency- C:0.00NS EA NA 592
    rs32133501,2
    C,F--44059514(-) cccctA/Gttggc 1 -- int11Minor allele frequency- G:0.01NS 178
    rs32133491,2
    C,F--44059517(-) cccccA/C/Gctatt 1 -- int11NS 178
    rs32133481,2
    C,F--44059637(-) gctgcA/Gggcag 1 -- int13Minor allele frequency- G:0.04NS WA 298
    rs1427081231,2
    C--44059684(+) AGAAA-/CCAGCC 1 -- int10--------
    rs1900065851,2
    --44059853(+) CCCTGC/GGGTTG 1 -- int10--------
    rs1382740101,2
    --44059855(+) CTGCGC/GTTGCT 1 -- int10--------
    rs28545011,2
    C,F,A,H--44060001(-) CACCAC/TGACAA 1 -- int133Minor allele frequency- T:0.14NS EA NA WA CSA 2777
    rs32133461,2
    C,F--44060019(-) TTTGCT/CATCTG 1 -- int12Minor allele frequency- C:0.02NS NA 300
    rs104050491,2
    C--44060046(+) attatC/Tattat 1 -- int10--------
    rs1857092361,2
    --44060378(+) GTGAAA/CGAGAA 1 -- int10--------
    rs32133451,2
    C,F,H--44060475(-) TGGGCG/ATTGCC 1 -- int118Minor allele frequency- A:0.01NS EA NA WA 2154
    rs1905074551,2
    --44060589(+) TTCTCA/GGGAGA 1 -- int10--------
    rs32133441,2
    C,F,H--44060653(-) CAATGC/GAGATT 1 -- int126Minor allele frequency- G:0.16NS EA NA WA 3080
    rs32133431,2
    C,F--44060684(-) gccacC/Tgcgcc 1 -- int12Minor allele frequency- T:0.02NS CSA 180
    rs1461498661,2
    --44060798(+) TAAAAA/GTACAA 1 -- int10--------
    rs1836026971,2
    --44060808(+) AAATTA/TAAGCC 1 -- int10--------
    rs28545001,2
    C,F,H--44060814(-) ATGCCC/TGGCTT 1 -- int110Minor allele frequency- T:0.17NS WA NA CSA EA 434
    rs1123999761,2
    C,F--44060816(+) GCCAGG/ACATGG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1423273871,2
    --44061020(+) GACATG/TGTGGT 1 -- int10--------
    rs32133411,2
    C--44061080(-) tcctgG/Tgttca 1 -- int11Minor allele frequency- T:0.01NS 180
    rs1884898291,2
    C--44061087(+) AGGAGA/TTGGAG 1 -- int10--------
    rs1922921641,2
    --44061106(+) GAGCCA/GAGATT 1 -- int10--------
    rs1840739791,2
    --44061245(+) CACGAC/GGTCAG 1 -- int10--------
    rs32133391,2
    C,F--44061397(-) tgcaaC/Tctccg 1 -- int12Minor allele frequency- T:0.03NS WA 178
    rs20220621,2
    C,F,H--44061415(-) ggcgcG/Aatctt 1 -- int16Minor allele frequency- A:0.24NS NA WA 188
    rs32133381,2
    C,F--44061454(-) gagacG/Agagtc 1 -- int11Minor allele frequency- A:0.02NS 168
    rs1139367651,2
    C--44061689(+) TGACCT/CTGACT 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs1507601441,2
    --44061866(+) TTGTAA/CCTGGG 1 -- int10--------
    rs28544991,2
    C--44061890(-) ctcggC/Ttcact 1 -- int15Minor allele frequency- T:0.00NA CSA 9
    rs1865125051,2
    --44061901(+) ATTGCA/CCCACT 1 -- int10--------
    rs32133371,2
    C,F--44061937(-) gatggA/Catttt 1 -- int11Minor allele frequency- C:0.01NS 180
    rs1476373241,2
    C--44062043(+) TGCCTC/TTGATG 1 -- int10--------
    rs1912996751,2
    --44062093(+) ACTTAC/TTGTAC 1 -- int1