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Items: 3

1.

rs328 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    8:19962213 (GRCh38)
    8:19819724 (GRCh37)
    Gene:
    LPL (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Clinical significance:
    likely-benign,benign
    Validated:
    by frequency,by cluster
    MAF:
    G=0.066964/300 (Estonian)
    G=0.07904/6220 (PAGE_STUDY)
    G=0.085/51 (NorthernSweden)
    G=0.086979/2728 (GnomAD)
    G=0.089712/11265 (TOPMED)
    G=0.092156/23148 (GnomAD_exomes)
    G=0.092452/463 (1000Genomes)
    G=0.093501/11340 (ExAC)
    G=0.106642/411 (ALSPAC)
    G=0.107875/400 (TWINSUK)
    G=0.127036/78 (Vietnamese)
    HGVS:
    NC_000008.11:g.19962213C>G, NC_000008.10:g.19819724C>G, NG_008855.2:g.65497C>G, NG_008855.1:g.28143C>G, NM_000237.3:c.1421C>G, NM_000237.2:c.1421C>G, NP_000228.1:p.Ser474Ter
    2.

    rs200 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:27907236 (GRCh38)
      7:27946855 (GRCh37)
      Gene:
      JAZF1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0./0 (Vietnamese)
      C=0.026757/134 (1000Genomes)
      C=0.040177/1261 (GnomAD)
      C=0.047886/6013 (TOPMED)
      C=0.048214/216 (Estonian)
      C=0.058333/35 (NorthernSweden)
      C=0.066943/258 (ALSPAC)
      C=0.072006/267 (TWINSUK)
      HGVS:
      NC_000007.14:g.27907236C>T, NC_000007.13:g.27946855C>T, NG_011499.1:g.278583G>A
      3.

      rs226 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:7864904 (GRCh38)
        3:7906591 (GRCh37)
        Validated:
        by frequency,by cluster
        MAF:
        C=0.025/15 (NorthernSweden)
        C=0.028023/108 (ALSPAC)
        C=0.029353/147 (1000Genomes)
        C=0.032206/4044 (TOPMED)
        C=0.033172/123 (TWINSUK)
        C=0.040793/1280 (GnomAD)
        C=0.054018/242 (Estonian)
        HGVS:
        NC_000003.12:g.7864904T>C, NC_000003.11:g.7906591T>C

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