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rs80338862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338862(A;A)
Make rs80338862(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71435575
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338862
ebirs80338862
HLIrs80338862
Exacrs80338862
Varsomers80338862
Maprs80338862
PheGenIrs80338862
hapmaprs80338862
1000 genomesrs80338862
hgdprs80338862
ensemblrs80338862
gopubmedrs80338862
geneviewrs80338862
scholarrs80338862
googlers80338862
pharmgkbrs80338862
gwascentralrs80338862
openSNPrs80338862
23andMers80338862
23andMe allrs80338862
SNP Nexus

SNPshotrs80338862
SNPdbers80338862
MSV3drs80338862
GWAS Ctlgrs80338862
Max Magnitude0
ClinVar
Risk rs80338862(A;A)
Alt rs80338862(A;A)
Reference rs80338862(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome not provided
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome not provided
Reversed 1
HGVS NC_000011.9:g.71146621C>T
CLNSRC HGMD
CLNACC RCV000020434.2, RCV000079640.3,


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