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1.

rs2395029 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    6:31464003 (GRCh38)
    6:31431780 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31464002:T:G
    Gene:
    HCP5 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Clinical significance:
    pathogenic,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.034196/8865 (ALFA)
    G=0.001711/5 (KOREAN)
    G=0.003289/1 (FINRISK)
    G=0.008333/5 (NorthernSweden)
    G=0.013378/8 (Vietnamese)
    G=0.018519/4 (Qatari)
    G=0.018727/10 (MGP)
    G=0.019036/15 (PRJEB37584)
    G=0.019608/2 (PRJEB36033)
    G=0.019712/41 (HGDP_Stanford)
    G=0.023576/3300 (GnomAD)
    G=0.023877/6320 (TOPMED)
    G=0.023884/107 (Estonian)
    G=0.026989/6123 (GnomAD_exomes)
    G=0.02826/3311 (ExAC)
    G=0.028987/377 (GoESP)
    G=0.030762/154 (1000Genomes)
    G=0.032064/32 (GoNL)
    G=0.032362/120 (TWINSUK)
    G=0.038921/150 (ALSPAC)
    G=0.041667/47 (Daghestan)
    G=0.059412/101 (HapMap)
    T=0.5/1 (Siberian)
    T=0.5/10 (SGDP_PRJ)
    HGVS:

    Supplemental Content

    Recent activity

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