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rs121908538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908538(C;T)
Make rs121908538(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position47954510
GeneSUCLA2
is asnp
is mentioned by
dbSNPrs121908538
ebirs121908538
HLIrs121908538
Exacrs121908538
Varsomers121908538
Maprs121908538
PheGenIrs121908538
hapmaprs121908538
1000 genomesrs121908538
hgdprs121908538
ensemblrs121908538
gopubmedrs121908538
geneviewrs121908538
scholarrs121908538
googlers121908538
pharmgkbrs121908538
gwascentralrs121908538
openSNPrs121908538
23andMers121908538
23andMe allrs121908538
SNP Nexus

SNPshotrs121908538
SNPdbers121908538
MSV3drs121908538
GWAS Ctlgrs121908538
Max Magnitude0
OMIM603921
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908538(T;T)
Alt rs121908538(T;T)
Reference rs121908538(C;C)
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.48528645G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006344.2,