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rs587777213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777213(C;T)
Make rs587777213(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position32755738
GeneYARS2
is asnp
is mentioned by
dbSNPrs587777213
ebirs587777213
HLIrs587777213
Exacrs587777213
Varsomers587777213
Maprs587777213
PheGenIrs587777213
hapmaprs587777213
1000 genomesrs587777213
hgdprs587777213
ensemblrs587777213
gopubmedrs587777213
geneviewrs587777213
scholarrs587777213
googlers587777213
pharmgkbrs587777213
gwascentralrs587777213
openSNPrs587777213
23andMers587777213
23andMe allrs587777213
SNP Nexus

SNPshotrs587777213
SNPdbers587777213
MSV3drs587777213
GWAS Ctlgrs587777213
Max Magnitude0
ClinVar
Risk rs587777213(C,T;C,T)
Alt rs587777213(C,T;C,T)
Reference rs587777213(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 1
HGVS NC_000012.11:g.32908672C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000088671.3,