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1.

rs199930 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    1:181772165 (GRCh38)
    1:181741301 (GRCh37)
    Canonical SPDI:
    NC_000001.11:181772164:C:G,NC_000001.11:181772164:C:T
    Gene:
    CACNA1E (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,synonymous_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.2373065/69742 (ALFA)
    T=0.0332969/61 (Korea1K)
    T=0.0354949/104 (KOREAN)
    T=0.0370473/268 (Korea4K)
    T=0.0532995/42 (PRJEB37584)
    T=0.0628858/4870 (TOMMO)
    T=0.0964052/59 (Vietnamese)
    T=0.225/9 (GENOME_DK)
    T=0.2301166/434 (HapMap)
    T=0.2304609/230 (GoNL)
    T=0.2385945/18775 (PAGE_STUDY)
    T=0.2434457/130 (MGP)
    T=0.2454073/1229 (1000Genomes)
    T=0.245888/344432 (GnomAD_exomes)
    T=0.2460962/1576 (1000Genomes_30X)
    T=0.2470334/916 (TWINSUK)
    T=0.2485016/30017 (ExAC)
    T=0.2487251/3219 (GoESP)
    T=0.2488292/37085 (GnomAD_genomes)
    T=0.25/76 (FINRISK)
    T=0.2550597/983 (ALSPAC)
    T=0.2600446/1165 (Estonian)
    T=0.275/165 (NorthernSweden)
    T=0.337963/73 (Qatari)
    C=0.4081633/80 (SGDP_PRJ)
    C=0.4375/7 (Siberian)
    HGVS:
    NC_000001.11:g.181772165C>G, NC_000001.11:g.181772165C>T, NC_000001.10:g.181741301C>G, NC_000001.10:g.181741301C>T, NG_050616.2:g.459468C>G, NG_050616.2:g.459468C>T, NG_050616.1:g.293855C>G, NG_050616.1:g.293855C>T, NM_000721.4:c.5073C>G, NM_000721.4:c.5073C>T, NM_000721.3:c.5073C>G, NM_000721.3:c.5073C>T, NM_001205293.3:c.5073C>G, NM_001205293.3:c.5073C>T, NM_001205293.2:c.5073C>G, NM_001205293.2:c.5073C>T, NM_001205293.1:c.5073C>G, NM_001205293.1:c.5073C>T, NM_001205294.2:c.5016C>G, NM_001205294.2:c.5016C>T, NM_001205294.1:c.5016C>G, NM_001205294.1:c.5016C>T, XM_017002244.2:c.5508C>G, XM_017002244.2:c.5508C>T, XM_017002244.1:c.5508C>G, XM_017002244.1:c.5508C>T, XM_017002243.2:c.5508C>G, XM_017002243.2:c.5508C>T, XM_017002243.1:c.5508C>G, XM_017002243.1:c.5508C>T, XM_017002246.2:c.5496C>G, XM_017002246.2:c.5496C>T, XM_017002246.1:c.5496C>G, XM_017002246.1:c.5496C>T, XM_017002245.2:c.5496C>G, XM_017002245.2:c.5496C>T, XM_017002245.1:c.5496C>G, XM_017002245.1:c.5496C>T, XM_017002247.2:c.5451C>G, XM_017002247.2:c.5451C>T, XM_017002247.1:c.5451C>G, XM_017002247.1:c.5451C>T, XM_017002248.2:c.5442C>G, XM_017002248.2:c.5442C>T, XM_017002248.1:c.5442C>G, XM_017002248.1:c.5442C>T, XM_017002249.2:c.5508C>G, XM_017002249.2:c.5508C>T, XM_017002249.1:c.5508C>G, XM_017002249.1:c.5508C>T, XM_017002250.2:c.5451C>G, XM_017002250.2:c.5451C>T, XM_017002250.1:c.5451C>G, XM_017002250.1:c.5451C>T, XM_047429979.1:c.5439C>G, XM_047429979.1:c.5439C>T, XM_017002251.1:c.5508C>G, XM_017002251.1:c.5508C>T, XM_047429980.1:c.5373C>G, XM_047429980.1:c.5373C>T, NP_000712.2:p.Asn1691Lys, NP_001192222.1:p.Asn1691Lys, NP_001192223.1:p.Asn1672Lys, XP_016857733.1:p.Asn1836Lys, XP_016857732.1:p.Asn1836Lys, XP_016857735.1:p.Asn1832Lys, XP_016857734.1:p.Asn1832Lys, XP_016857736.1:p.Asn1817Lys, XP_016857737.1:p.Asn1814Lys, XP_016857738.1:p.Asn1836Lys, XP_016857739.1:p.Asn1817Lys, XP_047285935.1:p.Asn1813Lys, XP_016857740.1:p.Asn1836Lys, XP_047285936.1:p.Asn1791Lys

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