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rs104886041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886041(C;C)
Make rs104886041(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444018
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886041
ebirs104886041
HLIrs104886041
Exacrs104886041
Varsomers104886041
Maprs104886041
PheGenIrs104886041
hapmaprs104886041
1000 genomesrs104886041
hgdprs104886041
ensemblrs104886041
gopubmedrs104886041
geneviewrs104886041
scholarrs104886041
googlers104886041
pharmgkbrs104886041
gwascentralrs104886041
openSNPrs104886041
23andMers104886041
23andMe allrs104886041
SNP Nexus

SNPshotrs104886041
SNPdbers104886041
MSV3drs104886041
GWAS Ctlgrs104886041
Max Magnitude0
ClinVar
Risk rs104886041(C;C)
Alt rs104886041(C;C)
Reference rs104886041(T;T)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71155064A>G
CLNSRC
CLNACC


[PMID 9653161OA-icon.png] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.