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Items: 3

1.

rs7499 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A
    Chromosome:
    21:45512414
    Gene:
    COL18A1 (GeneView), SLC19A1 (GeneView)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by cluster
    Global MAF:
    A=0.3960/1526 (ALSPAC)
    A=0.3980/1783 (Estonian)
    A=0.4030/4965 (GoESP)
    A=0.4124/1529 (TWINSUK)
    A=0.4185/99424 (GnomAD_exomes)
    A=0.4199/52726 (TOPMED)
    A=0.4212/12985 (GnomAD)
    A=0.4461/47062 (ExAC)
    A=0.4673/2340 (1000Genomes)
    HGVS:
    NC_000021.9:g.45512414G>A, NC_000021.8:g.46932328G>A, NG_028278.2:g.55730C>T, NG_011903.1:g.112223G>A, NM_030582.3:c.*16G>A, NM_130445.3:c.*16G>A, NM_130445.2:c.*16G>A, NM_130444.2:c.*16G>A
    2.

    rs61437544 has merged into rs7499 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A
      Chromosome:
      21:45512414
      Gene:
      COL18A1 (GeneView), SLC19A1 (GeneView)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by cluster
      Global MAF:
      A=0.3960/1526 (ALSPAC)
      A=0.3980/1783 (Estonian)
      A=0.4030/4965 (GoESP)
      A=0.4124/1529 (TWINSUK)
      A=0.4185/99424 (GnomAD_exomes)
      A=0.4199/52726 (TOPMED)
      A=0.4212/12985 (GnomAD)
      A=0.4461/47062 (ExAC)
      A=0.4673/2340 (1000Genomes)
      HGVS:
      NC_000021.9:g.45512414G>A, NC_000021.8:g.46932328G>A, NG_028278.2:g.55730C>T, NG_011903.1:g.112223G>A, NM_030582.3:c.*16G>A, NM_130445.3:c.*16G>A, NM_130445.2:c.*16G>A, NM_130444.2:c.*16G>A
      3.

      rs3190718 has merged into rs7499 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A
        Chromosome:
        21:45512414
        Gene:
        COL18A1 (GeneView), SLC19A1 (GeneView)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by cluster
        Global MAF:
        A=0.3960/1526 (ALSPAC)
        A=0.3980/1783 (Estonian)
        A=0.4030/4965 (GoESP)
        A=0.4124/1529 (TWINSUK)
        A=0.4185/99424 (GnomAD_exomes)
        A=0.4199/52726 (TOPMED)
        A=0.4212/12985 (GnomAD)
        A=0.4461/47062 (ExAC)
        A=0.4673/2340 (1000Genomes)
        HGVS:
        NC_000021.9:g.45512414G>A, NC_000021.8:g.46932328G>A, NG_028278.2:g.55730C>T, NG_011903.1:g.112223G>A, NM_030582.3:c.*16G>A, NM_130445.3:c.*16G>A, NM_130445.2:c.*16G>A, NM_130444.2:c.*16G>A

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