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rs137852637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852637(C;T)
Make rs137852637(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119753304
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs137852637
ebirs137852637
HLIrs137852637
Exacrs137852637
Varsomers137852637
Maprs137852637
PheGenIrs137852637
hapmaprs137852637
1000 genomesrs137852637
hgdprs137852637
ensemblrs137852637
gopubmedrs137852637
geneviewrs137852637
scholarrs137852637
googlers137852637
pharmgkbrs137852637
gwascentralrs137852637
openSNPrs137852637
23andMers137852637
23andMe allrs137852637
SNP Nexus

SNPshotrs137852637
SNPdbers137852637
MSV3drs137852637
GWAS Ctlgrs137852637
Max Magnitude0
OMIM600234
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852637(T;T)
Alt rs137852637(T;T)
Reference rs137852637(C;C)
Significance Pathogenic
Disease mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Variation info
Gene HMGCS2
CLNDBN mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Reversed 1
HGVS NC_000001.10:g.120295927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009840.3,