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rs104886037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886037(A;T)
Make rs104886037(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444129
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886037
ebirs104886037
HLIrs104886037
Exacrs104886037
Varsomers104886037
Maprs104886037
PheGenIrs104886037
hapmaprs104886037
1000 genomesrs104886037
hgdprs104886037
ensemblrs104886037
gopubmedrs104886037
geneviewrs104886037
scholarrs104886037
googlers104886037
pharmgkbrs104886037
gwascentralrs104886037
openSNPrs104886037
23andMers104886037
23andMe allrs104886037
SNP Nexus

SNPshotrs104886037
SNPdbers104886037
MSV3drs104886037
GWAS Ctlgrs104886037
Max Magnitude0
ClinVar
Risk rs104886037(T;T)
Alt rs104886037(T;T)
Reference rs104886037(A;A)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71155175T>A
CLNSRC
CLNACC


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