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rs104894090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894090(C;T)
Make rs104894090(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38146051
GeneSTAR
is asnp
is mentioned by
dbSNPrs104894090
ebirs104894090
HLIrs104894090
Exacrs104894090
Varsomers104894090
Maprs104894090
PheGenIrs104894090
hapmaprs104894090
1000 genomesrs104894090
hgdprs104894090
ensemblrs104894090
gopubmedrs104894090
geneviewrs104894090
scholarrs104894090
googlers104894090
pharmgkbrs104894090
gwascentralrs104894090
openSNPrs104894090
23andMers104894090
23andMe allrs104894090
SNP Nexus

SNPshotrs104894090
SNPdbers104894090
MSV3drs104894090
GWAS Ctlgrs104894090
Max Magnitude0
OMIM600617
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894090(T;T)
Alt rs104894090(T;T)
Reference rs104894090(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.38003569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009560.4,