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rs587777214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777214(A;A)
Make rs587777214(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position32750744
GeneYARS2
is asnp
is mentioned by
dbSNPrs587777214
dbSNP (classic)rs587777214
ClinGenrs587777214
ebirs587777214
HLIrs587777214
Exacrs587777214
Gnomadrs587777214
Varsomers587777214
LitVarrs587777214
Maprs587777214
PheGenIrs587777214
Biobankrs587777214
1000 genomesrs587777214
hgdprs587777214
ensemblrs587777214
geneviewrs587777214
scholarrs587777214
googlers587777214
pharmgkbrs587777214
gwascentralrs587777214
openSNPrs587777214
23andMers587777214
SNPshotrs587777214
SNPdbers587777214
MSV3drs587777214
GWAS Ctlgrs587777214
Max Magnitude0
ClinVar
Risk rs587777214(A;A)
Alt rs587777214(A;A)
Reference Rs587777214(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 0
HGVS NC_000012.11:g.32903678G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000088673.3,