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1.

rs3208856 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    19:44793549 (GRCh38)
    19:45296806 (GRCh37)
    Canonical SPDI:
    NC_000019.10:44793548:C:G,NC_000019.10:44793548:C:T
    Gene:
    CBLC (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.0334414/8456 (ALFA)
    T=0.0000129/1 (TOMMO)
    T=0.0012626/1 (PRJEB37584)
    T=0.0132743/15 (Daghestan)
    T=0.019369/97 (1000Genomes)
    T=0.0207668/13 (Chileans)
    T=0.0210806/135 (1000Genomes_30X)
    T=0.021181/33 (HapMap)
    T=0.0275862/8 (FINRISK)
    T=0.0277778/6 (Qatari)
    T=0.0282098/2220 (PAGE_STUDY)
    T=0.0297797/3052 (ExAC)
    T=0.0308575/43182 (GnomAD_exomes)
    T=0.0318352/17 (MGP)
    T=0.0318845/4758 (GnomAD_genomes)
    T=0.0331709/8780 (TOPMED)
    T=0.0333333/20 (NorthernSweden)
    T=0.0377562/140 (TWINSUK)
    T=0.0379464/170 (Estonian)
    T=0.03829/498 (GoESP)
    T=0.0394395/152 (ALSPAC)
    T=0.0420842/42 (GoNL)
    T=0.075/3 (GENOME_DK)
    C=0.5/3 (Siberian)
    C=0.5/7 (SGDP_PRJ)
    HGVS:
    NC_000019.10:g.44793549C>G, NC_000019.10:g.44793549C>T, NC_000019.9:g.45296806C>G, NC_000019.9:g.45296806C>T, NG_054718.1:g.20695C>G, NG_054718.1:g.20695C>T, NM_012116.4:c.1213C>G, NM_012116.4:c.1213C>T, NM_012116.3:c.1213C>G, NM_012116.3:c.1213C>T, NM_001130852.1:c.1075C>G, NM_001130852.1:c.1075C>T, XM_005258696.4:c.1213C>G, XM_005258696.4:c.1213C>T, XM_005258696.3:c.1213C>G, XM_005258696.3:c.1213C>T, XM_005258696.2:c.1213C>G, XM_005258696.2:c.1213C>T, XM_005258696.1:c.1213C>G, XM_005258696.1:c.1213C>T, XM_011526688.3:c.1213C>G, XM_011526688.3:c.1213C>T, XM_011526688.2:c.1213C>G, XM_011526688.2:c.1213C>T, XM_011526688.1:c.1213C>G, XM_011526688.1:c.1213C>T, XM_011526689.3:c.1075C>G, XM_011526689.3:c.1075C>T, XM_011526689.2:c.1075C>G, XM_011526689.2:c.1075C>T, XM_011526689.1:c.1075C>G, XM_011526689.1:c.1075C>T, NP_036248.3:p.His405Asp, NP_036248.3:p.His405Tyr, NP_001124324.1:p.His359Asp, NP_001124324.1:p.His359Tyr, XP_005258753.1:p.His405Asp, XP_005258753.1:p.His405Tyr, XP_011524990.1:p.His405Asp, XP_011524990.1:p.His405Tyr, XP_011524991.1:p.His359Asp, XP_011524991.1:p.His359Tyr

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