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rs113994098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994098(A;A)
Make rs113994098(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position89321792
GenePOLG
is asnp
is mentioned by
dbSNPrs113994098
ebirs113994098
HLIrs113994098
Exacrs113994098
Varsomers113994098
Maprs113994098
PheGenIrs113994098
hapmaprs113994098
1000 genomesrs113994098
hgdprs113994098
ensemblrs113994098
gopubmedrs113994098
geneviewrs113994098
scholarrs113994098
googlers113994098
pharmgkbrs113994098
gwascentralrs113994098
openSNPrs113994098
23andMers113994098
23andMe allrs113994098
SNP Nexus

SNPshotrs113994098
SNPdbers113994098
MSV3drs113994098
GWAS Ctlgrs113994098
Max Magnitude0
OMIM174763
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994098(A;A)
Alt rs113994098(A;A)
Reference rs113994098(G;G)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B not provided
Variation info
Gene POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided
Reversed 1
HGVS NC_000015.9:g.89865023C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014449.18, RCV000014450.25, RCV000014451.19, RCV000014452.25, RCV000188580.1,