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rs1057516375

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516375(A;A)
Make rs1057516375(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435822
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516375
dbSNP (old)rs1057516375
ClinGenrs1057516375
ebirs1057516375
HLIrs1057516375
Exacrs1057516375
Gnomadrs1057516375
Varsomers1057516375
Maprs1057516375
PheGenIrs1057516375
Biobankrs1057516375
1000 genomesrs1057516375
hgdprs1057516375
ensemblrs1057516375
gopubmedrs1057516375
geneviewrs1057516375
scholarrs1057516375
googlers1057516375
pharmgkbrs1057516375
gwascentralrs1057516375
openSNPrs1057516375
23andMers1057516375
23andMe allrs1057516375
SNPshotrs1057516375
SNPdbers1057516375
MSV3drs1057516375
GWAS Ctlgrs1057516375
Max Magnitude0
ClinVar
Risk rs1057516375(A;A)
Alt rs1057516375(A;A)
Reference Rs1057516375(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.71146868G>T
CLNSRC
CLNACC RCV000411396.1,