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rs104894089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894089(A;A)
Make rs104894089(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38146054
GeneSTAR
is asnp
is mentioned by
dbSNPrs104894089
ebirs104894089
HLIrs104894089
Exacrs104894089
Varsomers104894089
Maprs104894089
PheGenIrs104894089
hapmaprs104894089
1000 genomesrs104894089
hgdprs104894089
ensemblrs104894089
gopubmedrs104894089
geneviewrs104894089
scholarrs104894089
googlers104894089
pharmgkbrs104894089
gwascentralrs104894089
openSNPrs104894089
23andMers104894089
23andMe allrs104894089
SNP Nexus

SNPshotrs104894089
SNPdbers104894089
MSV3drs104894089
GWAS Ctlgrs104894089
Max Magnitude0
OMIM600617
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894089(A;A)
Alt rs104894089(A;A)
Reference rs104894089(G;G)
Significance Pathogenic
Disease Cholesterol monooxygenase (side-chain cleaving) deficiency
Variation info
Gene STAR
CLNDBN Cholesterol monooxygenase (side-chain cleaving) deficiency
Reversed 1
HGVS NC_000008.10:g.38003572C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009559.2,