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rs587777213

From SNPedia

Orientationplus
Stabilizedminus
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
dbSNP (classic)rs587777213
ClinGenrs587777213
ebirs587777213
HLIrs587777213
Exacrs587777213
Gnomadrs587777213
Varsomers587777213
LitVarrs587777213
Maprs587777213
PheGenIrs587777213
Biobankrs587777213
1000 genomesrs587777213
hgdprs587777213
ensemblrs587777213
geneviewrs587777213
scholarrs587777213
googlers587777213
pharmgkbrs587777213
gwascentralrs587777213
openSNPrs587777213
23andMers587777213
SNPshotrs587777213
SNPdbers587777213
MSV3drs587777213
GWAS Ctlgrs587777213
Max Magnitude0
ClinVar
Risk Rs587777213(C;C) rs587777213(T;T)
Alt Rs587777213(C;C) rs587777213(T;T)
Reference Rs587777213(G;G)
Significance Pathogenic
Disease Myopathy not provided
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2 not provided
Reversed 1
HGVS NC_000012.11:g.32908672C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000088671.3, RCV000255137.1,