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rs137852638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852638(A;A)
Make rs137852638(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119759915
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs137852638
ebirs137852638
HLIrs137852638
Exacrs137852638
Varsomers137852638
Maprs137852638
PheGenIrs137852638
hapmaprs137852638
1000 genomesrs137852638
hgdprs137852638
ensemblrs137852638
gopubmedrs137852638
geneviewrs137852638
scholarrs137852638
googlers137852638
pharmgkbrs137852638
gwascentralrs137852638
openSNPrs137852638
23andMers137852638
23andMe allrs137852638
SNP Nexus

SNPshotrs137852638
SNPdbers137852638
MSV3drs137852638
GWAS Ctlgrs137852638
Max Magnitude0
OMIM600234
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852638(A;A)
Alt rs137852638(A;A)
Reference rs137852638(G;G)
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.120302538C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009841.5,