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1.

rs6267 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    22:19962740 (GRCh38)
    22:19950263 (GRCh37)
    Canonical SPDI:
    NC_000022.11:19962739:G:A,NC_000022.11:19962739:G:T
    Gene:
    COMT (Varview), MIR4761 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
    Clinical significance:
    drug-response,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.003269/699 (ALFA)
    T=0./0 (TWINSUK)
    T=0.000259/1 (ALSPAC)
    T=0.001873/1 (MGP)
    T=0.00463/1 (Qatari)
    T=0.006667/4 (NorthernSweden)
    T=0.013379/67 (1000Genomes)
    T=0.013585/87 (1000Genomes_30X)
    T=0.016071/72 (Estonian)
    T=0.023148/5 (Vietnamese)
    T=0.024533/21 (HapMap)
    T=0.027933/10 (PharmGKB)
    T=0.036913/11 (FINRISK)
    T=0.051572/164 (PRJEB37766)
    T=0.060724/47 (PRJEB37584)
    T=0.082627/6399 (TOMMO)
    T=0.097336/285 (KOREAN)
    T=0.09953/720 (Korea4K)
    G=0.5/12 (SGDP_PRJ)
    G=0.5/3 (Siberian)
    HGVS:
    NC_000022.11:g.19962740G>A, NC_000022.11:g.19962740G>T, NC_000022.10:g.19950263G>A, NC_000022.10:g.19950263G>T, NG_011526.1:g.26001G>A, NG_011526.1:g.26001G>T, NM_000754.4:c.214G>A, NM_000754.4:c.214G>T, NM_000754.3:c.214G>A, NM_000754.3:c.214G>T, NM_007310.3:c.64G>A, NM_007310.3:c.64G>T, NM_007310.2:c.64G>A, NM_007310.2:c.64G>T, NM_001362828.2:c.214G>A, NM_001362828.2:c.214G>T, NM_001362828.1:c.214G>A, NM_001362828.1:c.214G>T, NM_001135161.2:c.214G>A, NM_001135161.2:c.214G>T, NM_001135161.1:c.214G>A, NM_001135161.1:c.214G>T, NM_001135162.2:c.214G>A, NM_001135162.2:c.214G>T, NM_001135162.1:c.214G>A, NM_001135162.1:c.214G>T, NG_144957.1:g.31G>A, NG_144957.1:g.31G>T, NG_144956.1:g.747G>A, NG_144956.1:g.747G>T, NP_000745.1:p.Ala72Thr, NP_000745.1:p.Ala72Ser, NP_009294.1:p.Ala22Thr, NP_009294.1:p.Ala22Ser, NP_001349757.1:p.Ala72Thr, NP_001349757.1:p.Ala72Ser, NP_001128633.1:p.Ala72Thr, NP_001128633.1:p.Ala72Ser, NP_001128634.1:p.Ala72Thr, NP_001128634.1:p.Ala72Ser

    PubMed

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