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rs142808899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142808899(C;T)
Make rs142808899(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position71437868
GeneDHCR7
is asnp
is mentioned by
dbSNPrs142808899
ebirs142808899
HLIrs142808899
Exacrs142808899
Varsomers142808899
Maprs142808899
PheGenIrs142808899
hapmaprs142808899
1000 genomesrs142808899
hgdprs142808899
ensemblrs142808899
gopubmedrs142808899
geneviewrs142808899
scholarrs142808899
googlers142808899
pharmgkbrs142808899
gwascentralrs142808899
openSNPrs142808899
23andMers142808899
23andMe allrs142808899
SNP Nexus

SNPshotrs142808899
SNPdbers142808899
MSV3drs142808899
GWAS Ctlgrs142808899
Max Magnitude0
ClinVar
Risk rs142808899(A,T;A,T)
Alt rs142808899(A,T;A,T)
Reference rs142808899(C;C)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71148914C>T
CLNSRC
CLNACC RCV000180217.1,