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rs137852690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852690(C;T)
Make rs137852690(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38145313
GeneSTAR
is asnp
is mentioned by
dbSNPrs137852690
ebirs137852690
HLIrs137852690
Exacrs137852690
Varsomers137852690
Maprs137852690
PheGenIrs137852690
hapmaprs137852690
1000 genomesrs137852690
hgdprs137852690
ensemblrs137852690
gopubmedrs137852690
geneviewrs137852690
scholarrs137852690
googlers137852690
pharmgkbrs137852690
gwascentralrs137852690
openSNPrs137852690
23andMers137852690
23andMe allrs137852690
SNP Nexus

SNPshotrs137852690
SNPdbers137852690
MSV3drs137852690
GWAS Ctlgrs137852690
Max Magnitude0
OMIM600617
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852690(T;T)
Alt rs137852690(T;T)
Reference rs137852690(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.38002831G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009556.4,