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rs121918053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918053(C;T)
Make rs121918053(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89321777
GenePOLG
is asnp
is mentioned by
dbSNPrs121918053
ebirs121918053
HLIrs121918053
Exacrs121918053
Varsomers121918053
Maprs121918053
PheGenIrs121918053
hapmaprs121918053
1000 genomesrs121918053
hgdprs121918053
ensemblrs121918053
gopubmedrs121918053
geneviewrs121918053
scholarrs121918053
googlers121918053
pharmgkbrs121918053
gwascentralrs121918053
openSNPrs121918053
23andMers121918053
23andMe allrs121918053
SNP Nexus

SNPshotrs121918053
SNPdbers121918053
MSV3drs121918053
GWAS Ctlgrs121918053
Max Magnitude0
OMIM174763
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121918053(T;T)
Alt rs121918053(T;T)
Reference rs121918053(C;C)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided
Variation info
Gene POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided
Reversed 1
HGVS NC_000015.9:g.89865008G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014466.26, RCV000188582.1,