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rs113994161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994161(A;A)
Make rs113994161(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position47988540
GeneSUCLA2
is asnp
is mentioned by
dbSNPrs113994161
ebirs113994161
HLIrs113994161
Exacrs113994161
Varsomers113994161
Maprs113994161
PheGenIrs113994161
hapmaprs113994161
1000 genomesrs113994161
hgdprs113994161
ensemblrs113994161
gopubmedrs113994161
geneviewrs113994161
scholarrs113994161
googlers113994161
pharmgkbrs113994161
gwascentralrs113994161
openSNPrs113994161
23andMers113994161
23andMe allrs113994161
SNP Nexus

SNPshotrs113994161
SNPdbers113994161
MSV3drs113994161
GWAS Ctlgrs113994161
Max Magnitude0
OMIM603921
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994161(A;A)
Alt rs113994161(A;A)
Reference rs113994161(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.48562675C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020560.3,