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rs137852636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852636(C;C)
Make rs137852636(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119764211
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs137852636
ebirs137852636
HLIrs137852636
Exacrs137852636
Varsomers137852636
Maprs137852636
PheGenIrs137852636
hapmaprs137852636
1000 genomesrs137852636
hgdprs137852636
ensemblrs137852636
gopubmedrs137852636
geneviewrs137852636
scholarrs137852636
googlers137852636
pharmgkbrs137852636
gwascentralrs137852636
openSNPrs137852636
23andMers137852636
23andMe allrs137852636
SNP Nexus

SNPshotrs137852636
SNPdbers137852636
MSV3drs137852636
GWAS Ctlgrs137852636
Max Magnitude0
OMIM600234
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852636(C;C)
Alt rs137852636(C;C)
Reference rs137852636(T;T)
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.120306834A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009839.3,