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1.

rs17822931 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    16:48224287 (GRCh38)
    16:48258198 (GRCh37)
    Canonical SPDI:
    NC_000016.10:48224286:C:G,NC_000016.10:48224286:C:T
    Gene:
    ABCC11 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.13407/46549 (ALFA)
    T=0./0 (PRJEB36033)
    C=0.011604/34 (KOREAN)
    C=0.04798/38 (PRJEB37584)
    T=0.102996/55 (MGP)
    T=0.122729/17199 (GnomAD)
    T=0.122977/456 (TWINSUK)
    C=0.127645/2139 (TOMMO)
    T=0.129756/34345 (TOPMED)
    T=0.131292/506 (ALSPAC)
    T=0.134259/29 (Qatari)
    T=0.134269/134 (GoNL)
    T=0.175/7 (GENOME_DK)
    T=0.184431/14514 (PAGE_STUDY)
    T=0.187054/838 (Estonian)
    T=0.189046/214 (Daghestan)
    T=0.225107/27269 (ExAC)
    T=0.226667/136 (NorthernSweden)
    T=0.236842/72 (FINRISK)
    C=0.25/9 (Siberian)
    T=0.284197/1423 (1000Genomes)
    C=0.287879/76 (SGDP_PRJ)
    T=0.292463/520 (HapMap)
    C=0.319149/195 (Vietnamese)
    T=0.446927/160 (PharmGKB)
    HGVS:
    NC_000016.10:g.48224287C>G, NC_000016.10:g.48224287C>T, NC_000016.9:g.48258198C>G, NC_000016.9:g.48258198C>T, NG_011522.1:g.15891G>C, NG_011522.1:g.15891G>A, NM_033151.3:c.538G>C, NM_033151.3:c.538G>A, NM_033151.4:c.538G>C, NM_033151.4:c.538G>A, NM_032583.3:c.538G>C, NM_032583.3:c.538G>A, NM_032583.4:c.538G>C, NM_032583.4:c.538G>A, NM_145186.2:c.538G>C, NM_145186.2:c.538G>A, NM_145186.3:c.538G>C, NM_145186.3:c.538G>A, XM_017023799.3:c.538G>C, XM_017023799.3:c.538G>A, XM_017023799.2:c.538G>C, XM_017023799.2:c.538G>A, XM_017023799.1:c.538G>C, XM_017023799.1:c.538G>A, XM_017023800.3:c.538G>C, XM_017023800.3:c.538G>A, XM_017023800.2:c.538G>C, XM_017023800.2:c.538G>A, XM_017023800.1:c.538G>C, XM_017023800.1:c.538G>A, XM_017023801.3:c.538G>C, XM_017023801.3:c.538G>A, XM_017023801.2:c.538G>C, XM_017023801.2:c.538G>A, XM_017023801.1:c.538G>C, XM_017023801.1:c.538G>A, XM_017023797.3:c.538G>C, XM_017023797.3:c.538G>A, XM_017023797.2:c.538G>C, XM_017023797.2:c.538G>A, XM_017023797.1:c.538G>C, XM_017023797.1:c.538G>A, XM_017023798.3:c.538G>C, XM_017023798.3:c.538G>A, XM_017023798.2:c.538G>C, XM_017023798.2:c.538G>A, XM_017023798.1:c.538G>C, XM_017023798.1:c.538G>A, NM_001370496.1:c.538G>C, NM_001370496.1:c.538G>A, NM_001370497.1:c.538G>C, NM_001370497.1:c.538G>A, XR_007064925.1:n.936G>C, XR_007064925.1:n.936G>A, XM_047434818.1:c.538G>C, XM_047434818.1:c.538G>A, NP_149163.2:p.Gly180Arg, NP_149163.2:p.Gly180Arg, NP_115972.2:p.Gly180Arg, NP_115972.2:p.Gly180Arg, NP_660187.1:p.Gly180Arg, NP_660187.1:p.Gly180Arg, XP_016879288.1:p.Gly180Arg, XP_016879288.1:p.Gly180Arg, XP_016879289.1:p.Gly180Arg, XP_016879289.1:p.Gly180Arg, XP_016879290.1:p.Gly180Arg, XP_016879290.1:p.Gly180Arg, XP_016879286.1:p.Gly180Arg, XP_016879286.1:p.Gly180Arg, XP_016879287.1:p.Gly180Arg, XP_016879287.1:p.Gly180Arg, NP_001357425.1:p.Gly180Arg, NP_001357425.1:p.Gly180Arg, NP_001357426.1:p.Gly180Arg, NP_001357426.1:p.Gly180Arg, XP_047290774.1:p.Gly180Arg, XP_047290774.1:p.Gly180Arg

    PubMed

    Supplemental Content