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rs121909764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909764(A;A)
Make rs121909764(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71438980
GeneDHCR7
is asnp
is mentioned by
dbSNPrs121909764
ebirs121909764
HLIrs121909764
Exacrs121909764
Varsomers121909764
Maprs121909764
PheGenIrs121909764
hapmaprs121909764
1000 genomesrs121909764
hgdprs121909764
ensemblrs121909764
gopubmedrs121909764
geneviewrs121909764
scholarrs121909764
googlers121909764
pharmgkbrs121909764
gwascentralrs121909764
openSNPrs121909764
23andMers121909764
23andMe allrs121909764
SNP Nexus

SNPshotrs121909764
SNPdbers121909764
MSV3drs121909764
GWAS Ctlgrs121909764
Max Magnitude0
OMIM602858
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909764(A;A)
Alt rs121909764(A;A)
Reference rs121909764(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71150026C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007183.4,