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rs104894086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894086(G;T)
Make rs104894086(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38146068
GeneSTAR
is asnp
is mentioned by
dbSNPrs104894086
ebirs104894086
HLIrs104894086
Exacrs104894086
Varsomers104894086
Maprs104894086
PheGenIrs104894086
hapmaprs104894086
1000 genomesrs104894086
hgdprs104894086
ensemblrs104894086
gopubmedrs104894086
geneviewrs104894086
scholarrs104894086
googlers104894086
pharmgkbrs104894086
gwascentralrs104894086
openSNPrs104894086
23andMers104894086
23andMe allrs104894086
SNP Nexus

SNPshotrs104894086
SNPdbers104894086
MSV3drs104894086
GWAS Ctlgrs104894086
Max Magnitude0
OMIM600617
Desc
Variant0010
Relatedalso
OMIM600617
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894086(A,T;A,T)
Alt rs104894086(A,T;A,T)
Reference rs104894086(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.38003586C>A; NC_000008.10:g.38003586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009551.2, RCV000009558.2,