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rs121918044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918044(G;G)
Make rs121918044(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89329055
GenePOLG
is asnp
is mentioned by
dbSNPrs121918044
ebirs121918044
HLIrs121918044
Exacrs121918044
Varsomers121918044
Maprs121918044
PheGenIrs121918044
hapmaprs121918044
1000 genomesrs121918044
hgdprs121918044
ensemblrs121918044
gopubmedrs121918044
geneviewrs121918044
scholarrs121918044
googlers121918044
pharmgkbrs121918044
gwascentralrs121918044
openSNPrs121918044
23andMers121918044
23andMe allrs121918044
SNP Nexus

SNPshotrs121918044
SNPdbers121918044
MSV3drs121918044
GWAS Ctlgrs121918044
Max Magnitude0
OMIM174763
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918044(G;G)
Alt rs121918044(G;G)
Reference rs121918044(T;T)
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.89872286A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014444.26, RCV000188648.1,