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rs387907061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907061(G;G)
Make rs387907061(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position44311507
GeneAARS2
is asnp
is mentioned by
dbSNPrs387907061
ebirs387907061
HLIrs387907061
Exacrs387907061
Varsomers387907061
Maprs387907061
PheGenIrs387907061
hapmaprs387907061
1000 genomesrs387907061
hgdprs387907061
ensemblrs387907061
gopubmedrs387907061
geneviewrs387907061
scholarrs387907061
googlers387907061
pharmgkbrs387907061
gwascentralrs387907061
openSNPrs387907061
23andMers387907061
23andMe allrs387907061
SNP Nexus

SNPshotrs387907061
SNPdbers387907061
MSV3drs387907061
GWAS Ctlgrs387907061
Max Magnitude0
ClinVar
Risk rs387907061(G;G)
Alt rs387907061(G;G)
Reference rs387907061(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 8
Variation info
Gene AARS2
CLNDBN Combined oxidative phosphorylation deficiency 8
Reversed 1
HGVS NC_000006.11:g.44279244A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023930.3,