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1.

rs717620 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    10:99782821 (GRCh38)
    10:101542578 (GRCh37)
    Canonical SPDI:
    NC_000010.11:99782820:C:A,NC_000010.11:99782820:C:G,NC_000010.11:99782820:C:T
    Gene:
    ABCC2 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Clinical significance:
    likely-benign,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.1906263/62339 (ALFA)
    T=0.1/4 (GENOME_DK)
    T=0.1201058/227 (HapMap)
    T=0.1219345/9596 (PAGE_STUDY)
    T=0.1261981/79 (Chileans)
    T=0.1290323/8 (PRJEB36033)
    T=0.1296296/28 (Qatari)
    T=0.133829/72 (PharmGKB)
    T=0.134984/676 (1000Genomes)
    T=0.136321/873 (1000Genomes_30X)
    T=0.1473535/39003 (TOPMED)
    T=0.1521605/1979 (GoESP)
    T=0.1528269/173 (Daghestan)
    T=0.1539261/22963 (GnomAD_genomes)
    T=0.1686755/20404 (ExAC)
    T=0.1899701/265598 (GnomAD_exomes)
    T=0.191968/14866 (TOMMO)
    T=0.193126/118 (Vietnamese)
    T=0.1974572/761 (ALSPAC)
    T=0.2044088/204 (GoNL)
    T=0.209375/938 (Estonian)
    T=0.2095469/777 (TWINSUK)
    T=0.2170051/171 (PRJEB37584)
    T=0.2241427/1621 (Korea4K)
    T=0.2302632/70 (FINRISK)
    T=0.2378277/127 (MGP)
    T=0.2467577/723 (KOREAN)
    T=0.275/165 (NorthernSweden)
    C=0.4632353/63 (SGDP_PRJ)
    C=0.5/6 (Siberian)
    HGVS:
    NC_000010.11:g.99782821C>A, NC_000010.11:g.99782821C>G, NC_000010.11:g.99782821C>T, NC_000010.10:g.101542578C>A, NC_000010.10:g.101542578C>G, NC_000010.10:g.101542578C>T, NG_011798.2:g.5224C>A, NG_011798.2:g.5224C>G, NG_011798.2:g.5224C>T, NM_000392.5:c.-24C>A, NM_000392.5:c.-24C>G, NM_000392.5:c.-24C>T, NM_000392.4:c.-24C>A, NM_000392.4:c.-24C>G, NM_000392.4:c.-24C>T, NM_000392.3:c.-24C>A, NM_000392.3:c.-24C>G, NM_000392.3:c.-24C>T, XM_006717631.5:c.-24C>A, XM_006717631.5:c.-24C>G, XM_006717631.5:c.-24C>T, XM_006717631.4:c.-24C>A, XM_006717631.4:c.-24C>G, XM_006717631.4:c.-24C>T, XM_006717631.3:c.-24C>A, XM_006717631.3:c.-24C>G, XM_006717631.3:c.-24C>T, XM_006717631.2:c.-24C>A, XM_006717631.2:c.-24C>G, XM_006717631.2:c.-24C>T, XM_006717631.1:c.-24C>A, XM_006717631.1:c.-24C>G, XM_006717631.1:c.-24C>T, XR_945604.4:n.182C>A, XR_945604.4:n.182C>G, XR_945604.4:n.182C>T, XR_945604.3:n.220C>A, XR_945604.3:n.220C>G, XR_945604.3:n.220C>T, XR_945604.2:n.199C>A, XR_945604.2:n.199C>G, XR_945604.2:n.199C>T, XR_945604.1:n.166C>A, XR_945604.1:n.166C>G, XR_945604.1:n.166C>T, XM_011539291.4:c.-24C>A, XM_011539291.4:c.-24C>G, XM_011539291.4:c.-24C>T, XM_011539291.3:c.-24C>A, XM_011539291.3:c.-24C>G, XM_011539291.3:c.-24C>T, XM_011539291.2:c.-24C>A, XM_011539291.2:c.-24C>G, XM_011539291.2:c.-24C>T, XM_011539291.1:c.-24C>A, XM_011539291.1:c.-24C>G, XM_011539291.1:c.-24C>T, XM_017015675.3:c.-24C>A, XM_017015675.3:c.-24C>G, XM_017015675.3:c.-24C>T, XM_017015675.2:c.-24C>A, XM_017015675.2:c.-24C>G, XM_017015675.2:c.-24C>T, XM_017015675.1:c.-24C>A, XM_017015675.1:c.-24C>G, XM_017015675.1:c.-24C>T, XM_047424598.1:c.-24C>A, XM_047424598.1:c.-24C>G, XM_047424598.1:c.-24C>T

    PubMed

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