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rs1057517070

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517070(G;G)
Make rs1057517070(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71437810
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057517070
dbSNP (old)rs1057517070
ClinGenrs1057517070
ebirs1057517070
HLIrs1057517070
Exacrs1057517070
Gnomadrs1057517070
Varsomers1057517070
Maprs1057517070
PheGenIrs1057517070
Biobankrs1057517070
1000 genomesrs1057517070
hgdprs1057517070
ensemblrs1057517070
gopubmedrs1057517070
geneviewrs1057517070
scholarrs1057517070
googlers1057517070
pharmgkbrs1057517070
gwascentralrs1057517070
openSNPrs1057517070
23andMers1057517070
23andMe allrs1057517070
SNPshotrs1057517070
SNPdbers1057517070
MSV3drs1057517070
GWAS Ctlgrs1057517070
Max Magnitude0
ClinVar
Risk rs1057517070(G;G)
Alt rs1057517070(G;G)
Reference Rs1057517070(T;T)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71148856A>C
CLNSRC
CLNACC RCV000410293.1,