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rs144500145

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144500145(A;A)
Make rs144500145(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position89321780
GenePOLG
is asnp
is mentioned by
dbSNPrs144500145
ebirs144500145
HLIrs144500145
Exacrs144500145
Varsomers144500145
Maprs144500145
PheGenIrs144500145
hapmaprs144500145
1000 genomesrs144500145
hgdprs144500145
ensemblrs144500145
gopubmedrs144500145
geneviewrs144500145
scholarrs144500145
googlers144500145
pharmgkbrs144500145
gwascentralrs144500145
openSNPrs144500145
23andMers144500145
23andMe allrs144500145
SNP Nexus

SNPshotrs144500145
SNPdbers144500145
MSV3drs144500145
GWAS Ctlgrs144500145
Max Magnitude0
ClinVar
Risk rs144500145(A;A)
Alt rs144500145(A;A)
Reference rs144500145(G;G)
Significance Pathogenic
Disease not provided Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy
Variation info
Gene POLG
CLNDBN not provided Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed 0
HGVS NC_000015.9:g.89865011G>A
CLNSRC
CLNACC RCV000188581.2, RCV000196524.1,