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1.

rs2229094 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:31572779 (GRCh38)
    6:31540556 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31572778:T:C
    Gene:
    LTA (Varview), LOC100287329 (Varview)
    Functional Consequence:
    2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.2677374/85050 (ALFA)
    C=0.1161049/62 (MGP)
    C=0.1816667/109 (NorthernSweden)
    C=0.1878714/14545 (TOMMO)
    C=0.2053388/600 (KOREAN)
    C=0.213219/1542 (Korea4K)
    C=0.225/9 (GENOME_DK)
    C=0.2350313/1052 (Estonian)
    C=0.2405063/190 (PRJEB37584)
    C=0.2490919/960 (ALSPAC)
    C=0.2524272/936 (TWINSUK)
    C=0.2617153/365866 (GnomAD_exomes)
    C=0.2635705/20743 (PAGE_STUDY)
    C=0.2638889/57 (Qatari)
    C=0.2642563/69946 (TOPMED)
    C=0.2645291/264 (GoNL)
    C=0.2690506/1723 (1000Genomes_30X)
    C=0.2707892/40138 (GnomAD_genomes)
    C=0.2717817/31537 (ExAC)
    C=0.2742356/2314 (GoESP)
    C=0.274361/1374 (1000Genomes)
    C=0.2814601/586 (HGDP_Stanford)
    C=0.3/24 (PRJEB36033)
    T=0.3076923/8 (Siberian)
    C=0.3585526/109 (FINRISK)
    T=0.4045802/106 (SGDP_PRJ)
    HGVS:
    NC_000006.12:g.31572779T>C, NC_000006.11:g.31540556T>C, NG_012010.2:g.17171T>C, NG_012010.1:g.5681T>C, NM_000595.4:c.37T>C, NM_000595.3:c.37T>C, NM_001159740.2:c.37T>C, NT_113891.3:g.3050066T>C, NT_113891.2:g.3050172T>C, NT_167245.2:g.2820512C>T, NT_167245.1:g.2826097C>T, NT_167249.2:g.2872059T>C, NT_167249.1:g.2871357T>C, NG_007462.1:g.2207T>C, NT_167246.2:g.2877820T>C, NT_167246.1:g.2883440T>C, NT_167248.2:g.2828598C>T, NT_167248.1:g.2834194C>T, NT_167247.2:g.2914677C>T, NT_167247.1:g.2920262C>T, XM_047418773.1:c.37T>C, XM_054329823.1:c.37T>C, XM_054329824.1:c.37T>C, XM_054330823.1:c.37C>T, XM_054331346.1:c.37T>C, XM_054330605.1:c.37T>C, XM_054331345.1:c.37T>C, XM_054330604.1:c.37T>C, XM_054331082.1:c.37C>T, XM_054330308.1:c.37C>T, XM_054331083.1:c.37C>T, XM_054330824.1:c.37C>T, XM_054330309.1:c.37C>T, NP_000586.2:p.Cys13Arg, NP_001153212.1:p.Cys13Arg, XP_047274729.1:p.Cys13Arg

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