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rs121909766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909766(A;G)
Make rs121909766(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71437936
GeneDHCR7
is asnp
is mentioned by
dbSNPrs121909766
ebirs121909766
HLIrs121909766
Exacrs121909766
Varsomers121909766
Maprs121909766
PheGenIrs121909766
hapmaprs121909766
1000 genomesrs121909766
hgdprs121909766
ensemblrs121909766
gopubmedrs121909766
geneviewrs121909766
scholarrs121909766
googlers121909766
pharmgkbrs121909766
gwascentralrs121909766
openSNPrs121909766
23andMers121909766
23andMe allrs121909766
SNP Nexus

SNPshotrs121909766
SNPdbers121909766
MSV3drs121909766
GWAS Ctlgrs121909766
Max Magnitude0
OMIM602858
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909766(G;G)
Alt rs121909766(G;G)
Reference rs121909766(A;A)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71148982T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007192.3,