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

rs80338855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338855(C;T)
Make rs80338855(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71441347
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338855
ebirs80338855
HLIrs80338855
Exacrs80338855
Varsomers80338855
Maprs80338855
PheGenIrs80338855
hapmaprs80338855
1000 genomesrs80338855
hgdprs80338855
ensemblrs80338855
gopubmedrs80338855
geneviewrs80338855
scholarrs80338855
googlers80338855
pharmgkbrs80338855
gwascentralrs80338855
openSNPrs80338855
23andMers80338855
23andMe allrs80338855
SNP Nexus

SNPshotrs80338855
SNPdbers80338855
MSV3drs80338855
GWAS Ctlgrs80338855
Max Magnitude0
ClinVar
Risk rs80338855(G,T;G,T)
Alt rs80338855(G,T;G,T)
Reference rs80338855(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.71152393G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020437.1,


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