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rs1057516517

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057516517(-;-)
Make rs1057516517(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435722
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516517
dbSNP (old)rs1057516517
ClinGenrs1057516517
ebirs1057516517
HLIrs1057516517
Exacrs1057516517
Gnomadrs1057516517
Varsomers1057516517
Maprs1057516517
PheGenIrs1057516517
Biobankrs1057516517
1000 genomesrs1057516517
hgdprs1057516517
ensemblrs1057516517
gopubmedrs1057516517
geneviewrs1057516517
scholarrs1057516517
googlers1057516517
pharmgkbrs1057516517
gwascentralrs1057516517
openSNPrs1057516517
23andMers1057516517
23andMe allrs1057516517
SNPshotrs1057516517
SNPdbers1057516517
MSV3drs1057516517
GWAS Ctlgrs1057516517
Max Magnitude0
ClinVar
Risk rs1057516517(-;-)
Alt rs1057516517(-;-)
Reference Rs1057516517(GT;GT)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71146768_71146769delAC
CLNSRC
CLNACC RCV000410733.1,