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rs28937320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937320(A;A)
Make rs28937320(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119764571
GeneHMGCS2
is asnp
is mentioned by
dbSNPrs28937320
ebirs28937320
HLIrs28937320
Exacrs28937320
Varsomers28937320
Maprs28937320
PheGenIrs28937320
hapmaprs28937320
1000 genomesrs28937320
hgdprs28937320
ensemblrs28937320
gopubmedrs28937320
geneviewrs28937320
scholarrs28937320
googlers28937320
pharmgkbrs28937320
gwascentralrs28937320
openSNPrs28937320
23andMers28937320
23andMe allrs28937320
SNP Nexus

SNPshotrs28937320
SNPdbers28937320
MSV3drs28937320
GWAS Ctlgrs28937320
Max Magnitude0
OMIM600234
DescHMG-CoA SYNTHASE DEFICIENCY
Variant0005
Relatedalso
ClinVar
Risk rs28937320(A;A)
Alt rs28937320(A;A)
Reference rs28937320(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.120307194C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009843.4,