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rs138119149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138119149(A;A)
Make rs138119149(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position44304512
GeneAARS2
is asnp
is mentioned by
dbSNPrs138119149
ebirs138119149
HLIrs138119149
Exacrs138119149
Varsomers138119149
Maprs138119149
PheGenIrs138119149
hapmaprs138119149
1000 genomesrs138119149
hgdprs138119149
ensemblrs138119149
gopubmedrs138119149
geneviewrs138119149
scholarrs138119149
googlers138119149
pharmgkbrs138119149
gwascentralrs138119149
openSNPrs138119149
23andMers138119149
23andMe allrs138119149
SNP Nexus

SNPshotrs138119149
SNPdbers138119149
MSV3drs138119149
GWAS Ctlgrs138119149
Max Magnitude0
ClinVar
Risk rs138119149(A;A)
Alt rs138119149(A;A)
Reference rs138119149(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 8 not provided
Variation info
Gene AARS2
CLNDBN Combined oxidative phosphorylation deficiency 8 not provided
Reversed 0
HGVS NC_000006.11:g.44272249G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023929.3, RCV000196012.2,