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rs80338857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338857(A;A)
Make rs80338857(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71438985
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338857
ebirs80338857
HLIrs80338857
Exacrs80338857
Varsomers80338857
Maprs80338857
PheGenIrs80338857
hapmaprs80338857
1000 genomesrs80338857
hgdprs80338857
ensemblrs80338857
gopubmedrs80338857
geneviewrs80338857
scholarrs80338857
googlers80338857
pharmgkbrs80338857
gwascentralrs80338857
openSNPrs80338857
23andMers80338857
23andMe allrs80338857
SNP Nexus

SNPshotrs80338857
SNPdbers80338857
MSV3drs80338857
GWAS Ctlgrs80338857
Max Magnitude0
ClinVar
Risk rs80338857(A;A)
Alt rs80338857(A;A)
Reference rs80338857(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71150031C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020439.1,


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