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rs1057516493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516493(A;A)
Make rs1057516493(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435604
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516493
dbSNP (old)rs1057516493
ClinGenrs1057516493
ebirs1057516493
HLIrs1057516493
Exacrs1057516493
Gnomadrs1057516493
Varsomers1057516493
Maprs1057516493
PheGenIrs1057516493
Biobankrs1057516493
1000 genomesrs1057516493
hgdprs1057516493
ensemblrs1057516493
gopubmedrs1057516493
geneviewrs1057516493
scholarrs1057516493
googlers1057516493
pharmgkbrs1057516493
gwascentralrs1057516493
openSNPrs1057516493
23andMers1057516493
23andMe allrs1057516493
SNPshotrs1057516493
SNPdbers1057516493
MSV3drs1057516493
GWAS Ctlgrs1057516493
Max Magnitude0
ClinVar
Risk rs1057516493(A;A)
Alt rs1057516493(A;A)
Reference Rs1057516493(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71146650C>T
CLNSRC
CLNACC RCV000411064.1,