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rs113994094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994094(C;T)
Make rs113994094(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position89330184
GenePOLG
is asnp
is mentioned by
dbSNPrs113994094
ebirs113994094
HLIrs113994094
Exacrs113994094
Varsomers113994094
Maprs113994094
PheGenIrs113994094
hapmaprs113994094
1000 genomesrs113994094
hgdprs113994094
ensemblrs113994094
gopubmedrs113994094
geneviewrs113994094
scholarrs113994094
googlers113994094
pharmgkbrs113994094
gwascentralrs113994094
openSNPrs113994094
23andMers113994094
23andMe allrs113994094
SNP Nexus

SNPshotrs113994094
SNPdbers113994094
MSV3drs113994094
GWAS Ctlgrs113994094
GMAF0.0009183
Max Magnitude0
OMIM174763
Desc
Variant0007
Relatedalso
ClinVar
Risk rs113994094(T;T)
Alt rs113994094(T;T)
Reference rs113994094(C;C)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome 4B Mitochondrial DNA depletion syndrome 1 (MNGIE type) Progressive sclerosing poliodystrophy not provided not specified
Variation info
Gene POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome 4B, MNGIE type Mitochondrial DNA depletion syndrome 1 (MNGIE type) Progressive sclerosing poliodystrophy not provided not specified
Reversed 1
HGVS NC_000015.9:g.89873415G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014447.19, RCV000014448.19, RCV000020484.1, RCV000184009.1, RCV000188641.2, RCV000194055.1,