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rs886042362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome11
Position71435455
GeneDHCR7
is asnp
is mentioned by
dbSNPrs886042362
dbSNP (classic)rs886042362
ClinGenrs886042362
ebirs886042362
HLIrs886042362
Exacrs886042362
Gnomadrs886042362
Varsomers886042362
LitVarrs886042362
Maprs886042362
PheGenIrs886042362
Biobankrs886042362
1000 genomesrs886042362
hgdprs886042362
ensemblrs886042362
geneviewrs886042362
scholarrs886042362
googlers886042362
pharmgkbrs886042362
gwascentralrs886042362
openSNPrs886042362
23andMers886042362
SNPshotrs886042362
SNPdbers886042362
MSV3drs886042362
GWAS Ctlgrs886042362
Max Magnitude0
ClinVar
Risk rs886042362(-;-)
Alt rs886042362(-;-)
Reference Rs886042362(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146501delG
CLNSRC
CLNACC RCV000316051.1,