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rs113994096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994096(C;T)
Make rs113994096(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position89325639
GenePOLG
is asnp
is mentioned by
dbSNPrs113994096
ebirs113994096
HLIrs113994096
Exacrs113994096
Varsomers113994096
Maprs113994096
PheGenIrs113994096
hapmaprs113994096
1000 genomesrs113994096
hgdprs113994096
ensemblrs113994096
gopubmedrs113994096
geneviewrs113994096
scholarrs113994096
googlers113994096
pharmgkbrs113994096
gwascentralrs113994096
openSNPrs113994096
23andMers113994096
23andMe allrs113994096
SNP Nexus

SNPshotrs113994096
SNPdbers113994096
MSV3drs113994096
GWAS Ctlgrs113994096
GMAF0.0009183
Max Magnitude0
OMIM174763
Desc
Variant0011
Relatedalso
ClinVar
Risk rs113994096(T;T)
Alt rs113994096(T;T)
Reference rs113994096(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 4B Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided not specified
Variation info
Gene POLG
CLNDBN Mitochondrial DNA depletion syndrome 4B, MNGIE type Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided not specified
Reversed 1
HGVS NC_000015.9:g.89868870G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014456.27, RCV000020473.1, RCV000186576.3, RCV000188666.2, RCV000193529.1,