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rs104886038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886038(C;C)
Make rs104886038(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444111
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886038
ebirs104886038
HLIrs104886038
Exacrs104886038
Varsomers104886038
Maprs104886038
PheGenIrs104886038
hapmaprs104886038
1000 genomesrs104886038
hgdprs104886038
ensemblrs104886038
gopubmedrs104886038
geneviewrs104886038
scholarrs104886038
googlers104886038
pharmgkbrs104886038
gwascentralrs104886038
openSNPrs104886038
23andMers104886038
23andMe allrs104886038
SNP Nexus

SNPshotrs104886038
SNPdbers104886038
MSV3drs104886038
GWAS Ctlgrs104886038
Max Magnitude0
ClinVar
Risk rs104886038(C;C)
Alt rs104886038(C;C)
Reference rs104886038(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.71155157A>G
CLNSRC
CLNACC


[PMID 15521979] DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.