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rs797045077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045077(-;G)
Make rs797045077(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32755515
GeneYARS2
is asnp
is mentioned by
dbSNPrs797045077
dbSNP (classic)rs797045077
ClinGenrs797045077
ebirs797045077
HLIrs797045077
Exacrs797045077
Gnomadrs797045077
Varsomers797045077
LitVarrs797045077
Maprs797045077
PheGenIrs797045077
Biobankrs797045077
1000 genomesrs797045077
hgdprs797045077
ensemblrs797045077
geneviewrs797045077
scholarrs797045077
googlers797045077
pharmgkbrs797045077
gwascentralrs797045077
openSNPrs797045077
23andMers797045077
SNPshotrs797045077
SNPdbers797045077
MSV3drs797045077
GWAS Ctlgrs797045077
Max Magnitude0
ClinVar
Risk rs797045077(G;G)
Alt rs797045077(G;G)
Reference Rs797045077(-;-)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 1
HGVS NC_000012.11:g.32908450dupC
CLNSRC Baylor College of Medicine
CLNACC RCV000191147.1,