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

rs104886036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886036(G;G)
Make rs104886036(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444138
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886036
ebirs104886036
HLIrs104886036
Exacrs104886036
Varsomers104886036
Maprs104886036
PheGenIrs104886036
hapmaprs104886036
1000 genomesrs104886036
hgdprs104886036
ensemblrs104886036
gopubmedrs104886036
geneviewrs104886036
scholarrs104886036
googlers104886036
pharmgkbrs104886036
gwascentralrs104886036
openSNPrs104886036
23andMers104886036
23andMe allrs104886036
SNP Nexus

SNPshotrs104886036
SNPdbers104886036
MSV3drs104886036
GWAS Ctlgrs104886036
Max Magnitude0
ClinVar
Risk rs104886036(G;G)
Alt rs104886036(G;G)
Reference rs104886036(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.71155184A>C
CLNSRC
CLNACC


[PMID 11111101] Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.