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rs104886032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886032(A;G)
Make rs104886032(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444142
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886032
ebirs104886032
HLIrs104886032
Exacrs104886032
Varsomers104886032
Maprs104886032
PheGenIrs104886032
hapmaprs104886032
1000 genomesrs104886032
hgdprs104886032
ensemblrs104886032
gopubmedrs104886032
geneviewrs104886032
scholarrs104886032
googlers104886032
pharmgkbrs104886032
gwascentralrs104886032
openSNPrs104886032
23andMers104886032
23andMe allrs104886032
SNP Nexus

SNPshotrs104886032
SNPdbers104886032
MSV3drs104886032
GWAS Ctlgrs104886032
Max Magnitude0
ClinVar
Risk rs104886032(G;G)
Alt rs104886032(G;G)
Reference rs104886032(A;A)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71155188T>C
CLNSRC
CLNACC