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Select item 9398201.

rs939820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:26444747 (GRCh38)
2:26667615 (GRCh37)
Canonical SPDI:: NC_000002.12:26444746:T:A,NC_000002.12:26444746:T:C,NC_000002.12:26444746:T:G
Gene:: DRC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0003395/73 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (FINRISK)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (Korea4K)
T=0./0 (MGP)
T=0./0 (NorthernSweden)
T=0./0 (PRJEB37584)
T=0./0 (Qatari)
T=0./0 (SGDP_PRJ)
T=0./0 (Siberian)
T=0./0 (TWINSUK)
T=0./0 (Vietnamese)
T=0.0000646/5 (TOMMO)
T=0.000234/328 (GnomAD_exomes)
T=0.0006673/81 (ExAC)
T=0.0007987/4 (1000Genomes)
T=0.0012492/8 (1000Genomes_30X)
T=0.0019031/284 (GnomAD_genomes)
T=0.0019991/26 (GoESP)
T=0.0023235/615 (TOPMED)
T=0.0032405/255 (PAGE_STUDY)
HGVS:: NC_000002.12:g.26444747T>A, NC_000002.12:g.26444747T>C, NC_000002.12:g.26444747T>G, NC_000002.11:g.26667615T>A, NC_000002.11:g.26667615T>C, NC_000002.11:g.26667615T>G, NG_042824.1:g.47836T>A, NG_042824.1:g.47836T>C, NG_042824.1:g.47836T>G, NM_145038.5:c.1195T>A, NM_145038.5:c.1195T>C, NM_145038.5:c.1195T>G, NM_145038.4:c.1195T>A, NM_145038.4:c.1195T>C, NM_145038.4:c.1195T>G, NM_145038.3:c.1195T>A, NM_145038.3:c.1195T>C, NM_145038.3:c.1195T>G, NM_145038.2:c.1195T>A, NM_145038.2:c.1195T>C, NM_145038.2:c.1195T>G, XM_047446339.1:c.175T>A, XM_047446339.1:c.175T>C, XM_047446339.1:c.175T>G, NP_659475.2:p.Trp399Arg, NP_659475.2:p.Trp399Arg, NP_659475.2:p.Trp399Gly, XP_047302295.1:p.Trp59Arg, XP_047302295.1:p.Trp59Arg, XP_047302295.1:p.Trp59Gly

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