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rs1057516618

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516618(-;-)
Make rs1057516618(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435808
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516618
dbSNP (old)rs1057516618
ClinGenrs1057516618
ebirs1057516618
HLIrs1057516618
Exacrs1057516618
Gnomadrs1057516618
Varsomers1057516618
Maprs1057516618
PheGenIrs1057516618
Biobankrs1057516618
1000 genomesrs1057516618
hgdprs1057516618
ensemblrs1057516618
gopubmedrs1057516618
geneviewrs1057516618
scholarrs1057516618
googlers1057516618
pharmgkbrs1057516618
gwascentralrs1057516618
openSNPrs1057516618
23andMers1057516618
23andMe allrs1057516618
SNPshotrs1057516618
SNPdbers1057516618
MSV3drs1057516618
GWAS Ctlgrs1057516618
Max Magnitude0
ClinVar
Risk rs1057516618(-;-)
Alt rs1057516618(-;-)
Reference Rs1057516618(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.71146854delA
CLNSRC
CLNACC RCV000411723.1,