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rs779709646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(T;T) 9 Smith-Lemli-Opitz syndrome
Make rs779709646(A;A)
Make rs779709646(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position71435664
GeneDHCR7
is asnp
is mentioned by
dbSNPrs779709646
ebirs779709646
HLIrs779709646
Exacrs779709646
Varsomers779709646
Maprs779709646
PheGenIrs779709646
hapmaprs779709646
1000 genomesrs779709646
hgdprs779709646
ensemblrs779709646
gopubmedrs779709646
geneviewrs779709646
scholarrs779709646
googlers779709646
pharmgkbrs779709646
gwascentralrs779709646
openSNPrs779709646
23andMers779709646
23andMe allrs779709646
SNP Nexus

SNPshotrs779709646
SNPdbers779709646
MSV3drs779709646
GWAS Ctlgrs779709646
Max Magnitude9
ClinVar
Risk rs779709646(A,T;A,T)
Alt rs779709646(A,T;A,T)
Reference rs779709646(C;C)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146710C>T
CLNSRC
CLNACC RCV000169472.1,