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rs121908537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908537(A;A)
Make rs121908537(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position47988901
GeneSUCLA2
is asnp
is mentioned by
dbSNPrs121908537
ebirs121908537
HLIrs121908537
Exacrs121908537
Varsomers121908537
Maprs121908537
PheGenIrs121908537
hapmaprs121908537
1000 genomesrs121908537
hgdprs121908537
ensemblrs121908537
gopubmedrs121908537
geneviewrs121908537
scholarrs121908537
googlers121908537
pharmgkbrs121908537
gwascentralrs121908537
openSNPrs121908537
23andMers121908537
23andMe allrs121908537
SNP Nexus

SNPshotrs121908537
SNPdbers121908537
MSV3drs121908537
GWAS Ctlgrs121908537
Max Magnitude0
OMIM603921
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908537(A;A)
Alt rs121908537(A;A)
Reference rs121908537(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Variation info
Gene SUCLA2
CLNDBN Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Reversed 1
HGVS NC_000013.10:g.48563036C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006343.2,