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rs121909765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909765(C;T)
Make rs121909765(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71437909
GeneDHCR7
is asnp
is mentioned by
dbSNPrs121909765
ebirs121909765
HLIrs121909765
Exacrs121909765
Varsomers121909765
Maprs121909765
PheGenIrs121909765
hapmaprs121909765
1000 genomesrs121909765
hgdprs121909765
ensemblrs121909765
gopubmedrs121909765
geneviewrs121909765
scholarrs121909765
googlers121909765
pharmgkbrs121909765
gwascentralrs121909765
openSNPrs121909765
23andMers121909765
23andMe allrs121909765
SNP Nexus

SNPshotrs121909765
SNPdbers121909765
MSV3drs121909765
GWAS Ctlgrs121909765
Max Magnitude0
OMIM602858
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909765(T;T)
Alt rs121909765(T;T)
Reference rs121909765(C;C)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71148955G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007191.3,