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rs80338858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338858(C;G)
Make rs80338858(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71437869
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338858
ebirs80338858
HLIrs80338858
Exacrs80338858
Varsomers80338858
Maprs80338858
PheGenIrs80338858
hapmaprs80338858
1000 genomesrs80338858
hgdprs80338858
ensemblrs80338858
gopubmedrs80338858
geneviewrs80338858
scholarrs80338858
googlers80338858
pharmgkbrs80338858
gwascentralrs80338858
openSNPrs80338858
23andMers80338858
23andMe allrs80338858
SNP Nexus

SNPshotrs80338858
SNPdbers80338858
MSV3drs80338858
GWAS Ctlgrs80338858
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338858(G,T;G,T)
Alt rs80338858(G,T;G,T)
Reference rs80338858(C;C)
Significance Pathogenic
Disease not provided Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN not provided Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71148915G>A; NC_000011.9:g.71148915G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000180216.1, RCV000020440.1,


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