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rs104894087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894087(A;A)
Make rs104894087(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38144382
GeneSTAR
is asnp
is mentioned by
dbSNPrs104894087
ebirs104894087
HLIrs104894087
Exacrs104894087
Varsomers104894087
Maprs104894087
PheGenIrs104894087
hapmaprs104894087
1000 genomesrs104894087
hgdprs104894087
ensemblrs104894087
gopubmedrs104894087
geneviewrs104894087
scholarrs104894087
googlers104894087
pharmgkbrs104894087
gwascentralrs104894087
openSNPrs104894087
23andMers104894087
23andMe allrs104894087
SNP Nexus

SNPshotrs104894087
SNPdbers104894087
MSV3drs104894087
GWAS Ctlgrs104894087
Max Magnitude0
OMIM600617
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894087(A;A)
Alt rs104894087(A;A)
Reference rs104894087(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.38001900C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009554.2,