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rs137852639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852639(A;A)
Make rs137852639(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119750830
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs137852639
ebirs137852639
HLIrs137852639
Exacrs137852639
Varsomers137852639
Maprs137852639
PheGenIrs137852639
hapmaprs137852639
1000 genomesrs137852639
hgdprs137852639
ensemblrs137852639
gopubmedrs137852639
geneviewrs137852639
scholarrs137852639
googlers137852639
pharmgkbrs137852639
gwascentralrs137852639
openSNPrs137852639
23andMers137852639
23andMe allrs137852639
SNP Nexus

SNPshotrs137852639
SNPdbers137852639
MSV3drs137852639
GWAS Ctlgrs137852639
Max Magnitude0
OMIM600234
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852639(A;A)
Alt rs137852639(A;A)
Reference rs137852639(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.120293453C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009842.4,