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rs121909768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(G;G) 0 common in clinvar


Make rs121909768(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position71435748
GeneDHCR7
is asnp
is mentioned by
dbSNPrs121909768
dbSNP (old)rs121909768
ClinGenrs121909768
ebirs121909768
HLIrs121909768
Exacrs121909768
Varsomers121909768
Maprs121909768
PheGenIrs121909768
Biobankrs121909768
1000 genomesrs121909768
hgdprs121909768
ensemblrs121909768
gopubmedrs121909768
geneviewrs121909768
scholarrs121909768
googlers121909768
pharmgkbrs121909768
gwascentralrs121909768
openSNPrs121909768
23andMers121909768
23andMe allrs121909768
SNP Nexus

SNPshotrs121909768
SNPdbers121909768
MSV3drs121909768
GWAS Ctlgrs121909768
Max Magnitude3
OMIM602858
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909768(A;A) rs121909768(T;T)
Alt rs121909768(A;A) rs121909768(T;T)
Reference Rs121909768(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome not provided
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome not provided
Reversed 1
HGVS NC_000011.9:g.71146794C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007197.4, RCV000254828.1,