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rs104886035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886035(C;T)
Make rs104886035(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444163
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886035
ebirs104886035
HLIrs104886035
Exacrs104886035
Varsomers104886035
Maprs104886035
PheGenIrs104886035
hapmaprs104886035
1000 genomesrs104886035
hgdprs104886035
ensemblrs104886035
gopubmedrs104886035
geneviewrs104886035
scholarrs104886035
googlers104886035
pharmgkbrs104886035
gwascentralrs104886035
openSNPrs104886035
23andMers104886035
23andMe allrs104886035
SNP Nexus

SNPshotrs104886035
SNPdbers104886035
MSV3drs104886035
GWAS Ctlgrs104886035
Max Magnitude0
ClinVar
Risk rs104886035(T;T)
Alt rs104886035(T;T)
Reference rs104886035(C;C)
Significance Pathogenic
Disease not provided Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN not provided Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71155209G>A
CLNSRC HGMD
CLNACC RCV000079646.3, RCV000178160.1,


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