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rs80338856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338856(C;T)
Make rs80338856(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71438986
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338856
ebirs80338856
HLIrs80338856
Exacrs80338856
Varsomers80338856
Maprs80338856
PheGenIrs80338856
hapmaprs80338856
1000 genomesrs80338856
hgdprs80338856
ensemblrs80338856
gopubmedrs80338856
geneviewrs80338856
scholarrs80338856
googlers80338856
pharmgkbrs80338856
gwascentralrs80338856
openSNPrs80338856
23andMers80338856
23andMe allrs80338856
SNP Nexus

SNPshotrs80338856
SNPdbers80338856
MSV3drs80338856
GWAS Ctlgrs80338856
Max Magnitude0
ClinVar
Risk rs80338856(T;T)
Alt rs80338856(T;T)
Reference rs80338856(C;C)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71150032G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020438.1,


[PMID 16207203OA-icon.png] Recent insights into the Smith-Lemli-Opitz syndrome.