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rs587777589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777589(-;-)
Make rs587777589(-;C)
Make rs587777589(C;C)
ReferenceGRCh38 38.1/142
Chromosome6
Position44311096
GeneAARS2
is asnp
is mentioned by
dbSNPrs587777589
ebirs587777589
HLIrs587777589
Exacrs587777589
Varsomers587777589
Maprs587777589
PheGenIrs587777589
hapmaprs587777589
1000 genomesrs587777589
hgdprs587777589
ensemblrs587777589
gopubmedrs587777589
geneviewrs587777589
scholarrs587777589
googlers587777589
pharmgkbrs587777589
gwascentralrs587777589
openSNPrs587777589
23andMers587777589
23andMe allrs587777589
SNP Nexus

SNPshotrs587777589
SNPdbers587777589
MSV3drs587777589
GWAS Ctlgrs587777589
Max Magnitude0
ClinVar
Risk rs587777589(C;C)
Alt rs587777589(C;C)
Reference rs587777589(;)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 8
Variation info
Gene AARS2
CLNDBN Combined oxidative phosphorylation deficiency 8
Reversed 0
HGVS NC_000006.11:g.44278833dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000132552.3,