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rs1057516977

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516977(C;T)
Make rs1057516977(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71444937
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516977
dbSNP (old)rs1057516977
ClinGenrs1057516977
ebirs1057516977
HLIrs1057516977
Exacrs1057516977
Gnomadrs1057516977
Varsomers1057516977
Maprs1057516977
PheGenIrs1057516977
Biobankrs1057516977
1000 genomesrs1057516977
hgdprs1057516977
ensemblrs1057516977
gopubmedrs1057516977
geneviewrs1057516977
scholarrs1057516977
googlers1057516977
pharmgkbrs1057516977
gwascentralrs1057516977
openSNPrs1057516977
23andMers1057516977
23andMe allrs1057516977
SNPshotrs1057516977
SNPdbers1057516977
MSV3drs1057516977
GWAS Ctlgrs1057516977
Max Magnitude0
ClinVar
Risk rs1057516977(T;T)
Alt rs1057516977(T;T)
Reference Rs1057516977(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.71155983G>A
CLNSRC
CLNACC RCV000411661.1,