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rs137852689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852689(C;C)
Make rs137852689(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38145963
GeneSTAR
is asnp
is mentioned by
dbSNPrs137852689
ebirs137852689
HLIrs137852689
Exacrs137852689
Varsomers137852689
Maprs137852689
PheGenIrs137852689
hapmaprs137852689
1000 genomesrs137852689
hgdprs137852689
ensemblrs137852689
gopubmedrs137852689
geneviewrs137852689
scholarrs137852689
googlers137852689
pharmgkbrs137852689
gwascentralrs137852689
openSNPrs137852689
23andMers137852689
23andMe allrs137852689
SNP Nexus

SNPshotrs137852689
SNPdbers137852689
MSV3drs137852689
GWAS Ctlgrs137852689
Max Magnitude0
OMIM600617
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852689(C;C)
Alt rs137852689(C;C)
Reference rs137852689(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.38003481C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009555.2,