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rs1057516610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516610(C;T)
Make rs1057516610(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435812
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516610
dbSNP (old)rs1057516610
ClinGenrs1057516610
ebirs1057516610
HLIrs1057516610
Exacrs1057516610
Gnomadrs1057516610
Varsomers1057516610
Maprs1057516610
PheGenIrs1057516610
Biobankrs1057516610
1000 genomesrs1057516610
hgdprs1057516610
ensemblrs1057516610
gopubmedrs1057516610
geneviewrs1057516610
scholarrs1057516610
googlers1057516610
pharmgkbrs1057516610
gwascentralrs1057516610
openSNPrs1057516610
23andMers1057516610
23andMe allrs1057516610
SNPshotrs1057516610
SNPdbers1057516610
MSV3drs1057516610
GWAS Ctlgrs1057516610
Max Magnitude0
ClinVar
Risk rs1057516610(T;T)
Alt rs1057516610(T;T)
Reference Rs1057516610(C;C)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71146858G>A
CLNSRC
CLNACC RCV000409015.1,