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rs121918045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918045(C;C)
Make rs121918045(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89333747
GenePOLG
is asnp
is mentioned by
dbSNPrs121918045
ebirs121918045
HLIrs121918045
Exacrs121918045
Varsomers121918045
Maprs121918045
PheGenIrs121918045
hapmaprs121918045
1000 genomesrs121918045
hgdprs121918045
ensemblrs121918045
gopubmedrs121918045
geneviewrs121918045
scholarrs121918045
googlers121918045
pharmgkbrs121918045
gwascentralrs121918045
openSNPrs121918045
23andMers121918045
23andMe allrs121918045
SNP Nexus

SNPshotrs121918045
SNPdbers121918045
MSV3drs121918045
GWAS Ctlgrs121918045
Max Magnitude0
OMIM174763
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918045(C;C)
Alt rs121918045(C;C)
Reference rs121918045(G;G)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia
Variation info
Gene POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia
Reversed 1
HGVS NC_000015.9:g.89876978C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014445.27,