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rs587777215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777215(C;C)
Make rs587777215(C;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position32747335
GeneYARS2
is asnp
is mentioned by
dbSNPrs587777215
ebirs587777215
HLIrs587777215
Exacrs587777215
Varsomers587777215
Maprs587777215
PheGenIrs587777215
hapmaprs587777215
1000 genomesrs587777215
hgdprs587777215
ensemblrs587777215
gopubmedrs587777215
geneviewrs587777215
scholarrs587777215
googlers587777215
pharmgkbrs587777215
gwascentralrs587777215
openSNPrs587777215
23andMers587777215
23andMe allrs587777215
SNP Nexus

SNPshotrs587777215
SNPdbers587777215
MSV3drs587777215
GWAS Ctlgrs587777215
Max Magnitude0
ClinVar
Risk rs587777215(C,T;C,T)
Alt rs587777215(C,T;C,T)
Reference rs587777215(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 1
HGVS NC_000012.11:g.32900269T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000088674.3,