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1.

rs538 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    1:6100898 (GRCh38)
    1:6160958 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6100897:A:C,NC_000001.11:6100897:A:G,NC_000001.11:6100897:A:T
    Gene:
    KCNAB2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.230411/4352 (ALFA)
    A=0.0157/46 (KOREAN)
    A=0.017694/128 (Korea4K)
    A=0.018692/4 (Vietnamese)
    A=0.160714/9 (Siberian)
    A=0.182836/98 (SGDP_PRJ)
    A=0.205/123 (NorthernSweden)
    A=0.207459/929 (Estonian)
    A=0.208932/1338 (1000Genomes_30X)
    A=0.209065/1047 (1000Genomes)
    A=0.219256/813 (TWINSUK)
    A=0.224961/867 (ALSPAC)
    A=0.230015/34316 (GnomAD_genomes)
    A=0.234694/23 (GnomAD_exomes)
    A=0.235717/62392 (TOPMED)
    A=0.260521/260 (GoNL)
    A=0.275/11 (GENOME_DK)
    A=0.347222/75 (Qatari)
    HGVS:
    NC_000001.11:g.6100898A>C, NC_000001.11:g.6100898A>G, NC_000001.11:g.6100898A>T, NC_000001.10:g.6160958A>C, NC_000001.10:g.6160958A>G, NC_000001.10:g.6160958A>T, NG_047091.1:g.113601A>C, NG_047091.1:g.113601A>G, NG_047091.1:g.113601A>T, NM_003636.4:c.*2324A>C, NM_003636.4:c.*2324A>G, NM_003636.4:c.*2324A>T, NM_003636.3:c.*2324A>C, NM_003636.3:c.*2324A>G, NM_003636.3:c.*2324A>T, NM_172130.3:c.*2324A>C, NM_172130.3:c.*2324A>G, NM_172130.3:c.*2324A>T, NM_172130.2:c.*2324A>C, NM_172130.2:c.*2324A>G, NM_172130.2:c.*2324A>T, NM_001199862.2:c.*2324A>C, NM_001199862.2:c.*2324A>G, NM_001199862.2:c.*2324A>T, NM_001199862.1:c.*2324A>C, NM_001199862.1:c.*2324A>G, NM_001199862.1:c.*2324A>T, NM_001199863.2:c.*2324A>C, NM_001199863.2:c.*2324A>G, NM_001199863.2:c.*2324A>T, NM_001199863.1:c.*2324A>C, NM_001199863.1:c.*2324A>G, NM_001199863.1:c.*2324A>T, NM_001199861.2:c.*2324A>C, NM_001199861.2:c.*2324A>G, NM_001199861.2:c.*2324A>T, NM_001199861.1:c.*2324A>C, NM_001199861.1:c.*2324A>G, NM_001199861.1:c.*2324A>T, NM_001199860.2:c.*2324A>C, NM_001199860.2:c.*2324A>G, NM_001199860.2:c.*2324A>T, NM_001199860.1:c.*2324A>C, NM_001199860.1:c.*2324A>G, NM_001199860.1:c.*2324A>T, XM_011542321.4:c.*2438A>C, XM_011542321.4:c.*2438A>G, XM_011542321.4:c.*2438A>T, XM_005263514.4:c.*2324A>C, XM_005263514.4:c.*2324A>G, XM_005263514.4:c.*2324A>T, XM_005263514.3:c.*2324A>C, XM_005263514.3:c.*2324A>G, XM_005263514.3:c.*2324A>T, XM_005263514.2:c.*2324A>C, XM_005263514.2:c.*2324A>G, XM_005263514.2:c.*2324A>T, XM_005263514.1:c.*2324A>C, XM_005263514.1:c.*2324A>G, XM_005263514.1:c.*2324A>T, XM_011542322.3:c.*2438A>C, XM_011542322.3:c.*2438A>G, XM_011542322.3:c.*2438A>T, XM_017002620.2:c.*2324A>C, XM_017002620.2:c.*2324A>G, XM_017002620.2:c.*2324A>T, XM_017002620.1:c.*2324A>C, XM_017002620.1:c.*2324A>G, XM_017002620.1:c.*2324A>T, XM_047432866.1:c.*2438A>C, XM_047432866.1:c.*2438A>G, XM_047432866.1:c.*2438A>T, XM_047432870.1:c.*2324A>C, XM_047432870.1:c.*2324A>G, XM_047432870.1:c.*2324A>T, XM_047432872.1:c.*2324A>C, XM_047432872.1:c.*2324A>G, XM_047432872.1:c.*2324A>T, XM_047432867.1:c.*2324A>C, XM_047432867.1:c.*2324A>G, XM_047432867.1:c.*2324A>T

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