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rs267607180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607180(C;G)
Make rs267607180(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32755719
GeneYARS2
is asnp
is mentioned by
dbSNPrs267607180
ebirs267607180
HLIrs267607180
Exacrs267607180
Varsomers267607180
Maprs267607180
PheGenIrs267607180
hapmaprs267607180
1000 genomesrs267607180
hgdprs267607180
ensemblrs267607180
gopubmedrs267607180
geneviewrs267607180
scholarrs267607180
googlers267607180
pharmgkbrs267607180
gwascentralrs267607180
openSNPrs267607180
23andMers267607180
23andMe allrs267607180
SNP Nexus

SNPshotrs267607180
SNPdbers267607180
MSV3drs267607180
GWAS Ctlgrs267607180
Max Magnitude0
ClinVar
Risk rs267607180(G,T;G,T)
Alt rs267607180(G,T;G,T)
Reference rs267607180(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 1
HGVS NC_000012.11:g.32908653G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001111.4,