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rs104894085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894085(C;T)
Make rs104894085(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38144359
GeneSTAR
is asnp
is mentioned by
dbSNPrs104894085
ebirs104894085
HLIrs104894085
Exacrs104894085
Varsomers104894085
Maprs104894085
PheGenIrs104894085
hapmaprs104894085
1000 genomesrs104894085
hgdprs104894085
ensemblrs104894085
gopubmedrs104894085
geneviewrs104894085
scholarrs104894085
googlers104894085
pharmgkbrs104894085
gwascentralrs104894085
openSNPrs104894085
23andMers104894085
23andMe allrs104894085
SNP Nexus

SNPshotrs104894085
SNPdbers104894085
MSV3drs104894085
GWAS Ctlgrs104894085
Max Magnitude0
OMIM600617
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894085(T;T)
Alt rs104894085(T;T)
Reference rs104894085(C;C)
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.38001877G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009550.2,