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rs113994095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994095(A;A)
Make rs113994095(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position89327201
GeneMIR6766, POLG
is asnp
is mentioned by
dbSNPrs113994095
ebirs113994095
HLIrs113994095
Exacrs113994095
Varsomers113994095
Maprs113994095
PheGenIrs113994095
hapmaprs113994095
1000 genomesrs113994095
hgdprs113994095
ensemblrs113994095
gopubmedrs113994095
geneviewrs113994095
scholarrs113994095
googlers113994095
pharmgkbrs113994095
gwascentralrs113994095
openSNPrs113994095
23andMers113994095
23andMe allrs113994095
SNP Nexus

SNPshotrs113994095
SNPdbers113994095
MSV3drs113994095
GWAS Ctlgrs113994095
GMAF0.0004591
Max Magnitude0
OMIM174763
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994095(A;A)
Alt rs113994095(A;A)
Reference rs113994095(G;G)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided
Variation info
Gene MIR6766 POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided
Reversed 1
HGVS NC_000015.9:g.89870432C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014440.20, RCV000014441.26, RCV000014442.27, RCV000014443.19, RCV000184011.1, RCV000188658.1,