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rs1057516920

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516920(A;A)
Make rs1057516920(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71438877
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516920
dbSNP (old)rs1057516920
ClinGenrs1057516920
ebirs1057516920
HLIrs1057516920
Exacrs1057516920
Gnomadrs1057516920
Varsomers1057516920
Maprs1057516920
PheGenIrs1057516920
Biobankrs1057516920
1000 genomesrs1057516920
hgdprs1057516920
ensemblrs1057516920
gopubmedrs1057516920
geneviewrs1057516920
scholarrs1057516920
googlers1057516920
pharmgkbrs1057516920
gwascentralrs1057516920
openSNPrs1057516920
23andMers1057516920
23andMe allrs1057516920
SNPshotrs1057516920
SNPdbers1057516920
MSV3drs1057516920
GWAS Ctlgrs1057516920
Max Magnitude0
ClinVar
Risk rs1057516920(A;A)
Alt rs1057516920(A;A)
Reference Rs1057516920(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.71149923A>T
CLNSRC
CLNACC RCV000409593.1,