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Links from PMC

Items: 3

1.

rs11674089 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    2:26364208 (GRCh38)
    2:26587076 (GRCh37)
    Canonical SPDI:
    NC_000002.12:26364207:G:A,NC_000002.12:26364207:G:C,NC_000002.12:26364207:G:T
    Gene:
    SELENOI (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.155117/2600 (TOMMO)
    A=0.193231/354 (Korea1K)
    A=0.199317/584 (KOREAN)
    A=0.213757/404 (HapMap)
    A=0.226852/49 (Qatari)
    A=0.247033/1237 (1000Genomes)
    A=0.272587/72151 (TOPMED)
    A=0.277154/148 (MGP)
    A=0.284692/39661 (GnomAD)
    A=0.301823/629 (HGDP_Stanford)
    A=0.334458/1289 (ALSPAC)
    A=0.335/201 (NorthernSweden)
    A=0.348706/1293 (TWINSUK)
    A=0.358717/358 (GoNL)
    G=0.368421/14 (Siberian)
    A=0.372041/1666 (Estonian)
    A=0.382075/81 (Vietnamese)
    G=0.397059/108 (SGDP_PRJ)
    A=0.4/16 (GENOME_DK)
    A=0.472222/34 (PRJEB36033)
    HGVS:
    2.

    rs2304429 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      2:25235677 (GRCh38)
      2:25458546 (GRCh37)
      Canonical SPDI:
      NC_000002.12:25235676:C:A,NC_000002.12:25235676:C:T
      Gene:
      DNMT3A (Varview)
      Functional Consequence:
      downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.443974/137021 (ALFA)
      T=0.247878/146 (Vietnamese)
      T=0.293893/231 (PRJEB37584)
      T=0.294539/863 (KOREAN)
      T=0.300218/550 (Korea1K)
      C=0.309524/13 (Siberian)
      C=0.328947/100 (SGDP_PRJ)
      T=0.332275/628 (HapMap)
      T=0.357277/1789 (1000Genomes)
      T=0.360298/28354 (PAGE_STUDY)
      T=0.36556/6127 (TOMMO)
      C=0.383333/230 (NorthernSweden)
      C=0.4/16 (GENOME_DK)
      C=0.4/1792 (Estonian)
      C=0.401804/401 (GoNL)
      C=0.409655/1519 (TWINSUK)
      C=0.413596/1594 (ALSPAC)
      C=0.424342/129 (FINRISK)
      T=0.434678/905 (HGDP_Stanford)
      C=0.436833/89584 (GENOGRAPHIC)
      T=0.438551/116080 (TOPMED)
      C=0.44/44 (PRJEB36033)
      T=0.452455/63350 (GnomAD)
      T=0.455636/5926 (GoESP)
      C=0.481481/104 (Qatari)
      C=0.485019/259 (MGP)
      C=0.486224/121030 (GnomAD_exomes)
      C=0.490232/59222 (ExAC)
      HGVS:
      3.

      rs1662987 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        2:26715314 (GRCh38)
        2:26938182 (GRCh37)
        Canonical SPDI:
        NC_000002.12:26715313:G:A,NC_000002.12:26715313:G:C,NC_000002.12:26715313:G:T
        Gene:
        KCNK3 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.237283/46916 (ALFA)
        T=0./0 (KOREAN)
        G=0.160714/9 (Siberian)
        G=0.164179/88 (SGDP_PRJ)
        G=0.196667/118 (NorthernSweden)
        G=0.229018/1026 (Estonian)
        G=0.234165/488 (HGDP_Stanford)
        G=0.24001/925 (ALSPAC)
        G=0.240831/893 (TWINSUK)
        G=0.246493/246 (GoNL)
        G=0.25/54 (Qatari)
        G=0.256141/67798 (TOPMED)
        G=0.257516/36077 (GnomAD)
        G=0.262336/1314 (1000Genomes)
        G=0.269556/510 (HapMap)
        G=0.3/12 (GENOME_DK)
        G=0.303029/5079 (TOMMO)
        G=0.311321/66 (Vietnamese)
        G=0.344828/20 (PRJEB36033)
        HGVS:

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