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1.

rs1800014 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    20:4699875 (GRCh38)
    20:4680521 (GRCh37)
    Canonical SPDI:
    NC_000020.11:4699874:G:A,NC_000020.11:4699874:G:T
    Gene:
    PRNP (Varview)
    Functional Consequence:
    missense_variant,3_prime_UTR_variant,coding_sequence_variant,stop_gained
    Clinical significance:
    benign,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.0022042/501 (ALFA)
    A=0.0002595/1 (ALSPAC)
    A=0.0002697/1 (TWINSUK)
    A=0.0021119/559 (TOPMED)
    A=0.0030798/458 (GnomAD_genomes)
    A=0.004075/5711 (GnomAD_exomes)
    A=0.0046296/1 (Qatari)
    A=0.0073062/575 (PAGE_STUDY)
    A=0.0087284/1058 (ExAC)
    A=0.0097002/11 (Daghestan)
    A=0.0157714/101 (1000Genomes_30X)
    A=0.0161741/81 (1000Genomes)
    A=0.030303/24 (PRJEB37584)
    A=0.0469432/86 (Korea1K)
    A=0.0475532/344 (Korea4K)
    A=0.0523614/153 (KOREAN)
    A=0.0646532/5007 (TOMMO)
    G=0.5/10 (SGDP_PRJ)
    HGVS:
    NC_000020.11:g.4699875G>A, NC_000020.11:g.4699875G>T, NC_000020.10:g.4680521G>A, NC_000020.10:g.4680521G>T, NG_009087.1:g.18725G>A, NG_009087.1:g.18725G>T, NM_000311.5:c.655G>A, NM_000311.5:c.655G>T, NM_000311.4:c.655G>A, NM_000311.4:c.655G>T, NM_000311.3:c.655G>A, NM_000311.3:c.655G>T, NM_183079.4:c.655G>A, NM_183079.4:c.655G>T, NM_183079.3:c.655G>A, NM_183079.3:c.655G>T, NM_183079.2:c.655G>A, NM_183079.2:c.655G>T, NM_001080123.3:c.655G>A, NM_001080123.3:c.655G>T, NM_001080123.2:c.655G>A, NM_001080123.2:c.655G>T, NM_001080123.1:c.655G>A, NM_001080123.1:c.655G>T, NM_001271561.3:c.*344G>A, NM_001271561.3:c.*344G>T, NM_001271561.2:c.*344G>A, NM_001271561.2:c.*344G>T, NM_001271561.1:c.*344G>A, NM_001271561.1:c.*344G>T, NM_001080121.3:c.655G>A, NM_001080121.3:c.655G>T, NM_001080121.2:c.655G>A, NM_001080121.2:c.655G>T, NM_001080121.1:c.655G>A, NM_001080121.1:c.655G>T, NM_001080122.3:c.655G>A, NM_001080122.3:c.655G>T, NM_001080122.2:c.655G>A, NM_001080122.2:c.655G>T, NM_001080122.1:c.655G>A, NM_001080122.1:c.655G>T, NG_161563.1:g.903G>A, NG_161563.1:g.903G>T, NP_000302.1:p.Glu219Lys, NP_000302.1:p.Glu219Ter, NP_898902.1:p.Glu219Lys, NP_898902.1:p.Glu219Ter, NP_001073592.1:p.Glu219Lys, NP_001073592.1:p.Glu219Ter, NP_001073590.1:p.Glu219Lys, NP_001073590.1:p.Glu219Ter, NP_001073591.1:p.Glu219Lys, NP_001073591.1:p.Glu219Ter

    PubMed

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