Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918051(G;T)
Make rs121918051(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89320878
GenePOLG
is asnp
is mentioned by
dbSNPrs121918051
ebirs121918051
HLIrs121918051
Exacrs121918051
Varsomers121918051
Maprs121918051
PheGenIrs121918051
hapmaprs121918051
1000 genomesrs121918051
hgdprs121918051
ensemblrs121918051
gopubmedrs121918051
geneviewrs121918051
scholarrs121918051
googlers121918051
pharmgkbrs121918051
gwascentralrs121918051
openSNPrs121918051
23andMers121918051
23andMe allrs121918051
SNP Nexus

SNPshotrs121918051
SNPdbers121918051
MSV3drs121918051
GWAS Ctlgrs121918051
Max Magnitude0
OMIM174763
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918051(T;T)
Alt rs121918051(T;T)
Reference rs121918051(G;G)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Variation info
Gene POLG
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Reversed 1
HGVS NC_000015.9:g.89864109C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014462.18,