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rs137852640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852640(A;G)
Make rs137852640(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119764231
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs137852640
ebirs137852640
HLIrs137852640
Exacrs137852640
Varsomers137852640
Maprs137852640
PheGenIrs137852640
hapmaprs137852640
1000 genomesrs137852640
hgdprs137852640
ensemblrs137852640
gopubmedrs137852640
geneviewrs137852640
scholarrs137852640
googlers137852640
pharmgkbrs137852640
gwascentralrs137852640
openSNPrs137852640
23andMers137852640
23andMe allrs137852640
SNP Nexus

SNPshotrs137852640
SNPdbers137852640
MSV3drs137852640
GWAS Ctlgrs137852640
Max Magnitude0
OMIM600234
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852640(G;G)
Alt rs137852640(G;G)
Reference rs137852640(A;A)
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.120306854T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009844.4,