Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886040(C;C)
Make rs104886040(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71443993
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886040
ebirs104886040
HLIrs104886040
Exacrs104886040
Varsomers104886040
Maprs104886040
PheGenIrs104886040
hapmaprs104886040
1000 genomesrs104886040
hgdprs104886040
ensemblrs104886040
gopubmedrs104886040
geneviewrs104886040
scholarrs104886040
googlers104886040
pharmgkbrs104886040
gwascentralrs104886040
openSNPrs104886040
23andMers104886040
23andMe allrs104886040
SNP Nexus

SNPshotrs104886040
SNPdbers104886040
MSV3drs104886040
GWAS Ctlgrs104886040
Max Magnitude0
ClinVar
Risk rs104886040(C;C)
Alt rs104886040(C;C)
Reference rs104886040(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71155039C>G
CLNSRC
CLNACC


[PMID 10677299OA-icon.png] Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.