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rs775034584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs775034584(A;G)
Make rs775034584(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position71435377
GeneDHCR7
is asnp
is mentioned by
dbSNPrs775034584
ebirs775034584
HLIrs775034584
Exacrs775034584
Varsomers775034584
Maprs775034584
PheGenIrs775034584
hapmaprs775034584
1000 genomesrs775034584
hgdprs775034584
ensemblrs775034584
gopubmedrs775034584
geneviewrs775034584
scholarrs775034584
googlers775034584
pharmgkbrs775034584
gwascentralrs775034584
openSNPrs775034584
23andMers775034584
23andMe allrs775034584
SNP Nexus

SNPshotrs775034584
SNPdbers775034584
MSV3drs775034584
GWAS Ctlgrs775034584
Max Magnitude0
ClinVar
Risk rs775034584(G;G)
Alt rs775034584(G;G)
Reference rs775034584(A;A)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146423A>G
CLNSRC
CLNACC RCV000169316.1,