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rs1057516973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516973(G;T)
Make rs1057516973(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71437811
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516973
dbSNP (classic)rs1057516973
ClinGenrs1057516973
ebirs1057516973
HLIrs1057516973
Exacrs1057516973
Gnomadrs1057516973
Varsomers1057516973
LitVarrs1057516973
Maprs1057516973
PheGenIrs1057516973
Biobankrs1057516973
1000 genomesrs1057516973
hgdprs1057516973
ensemblrs1057516973
geneviewrs1057516973
scholarrs1057516973
googlers1057516973
pharmgkbrs1057516973
gwascentralrs1057516973
openSNPrs1057516973
23andMers1057516973
23andMe allrs1057516973
SNPshotrs1057516973
SNPdbers1057516973
MSV3drs1057516973
GWAS Ctlgrs1057516973
Max Magnitude0
ClinVar
Risk rs1057516973(T;T)
Alt rs1057516973(T;T)
Reference Rs1057516973(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.71148857C>A
CLNSRC
CLNACC RCV000411265.1,