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rs397514659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514659(C;G)
Make rs397514659(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position64492970
GenePOLG2
is asnp
is mentioned by
dbSNPrs397514659
ebirs397514659
HLIrs397514659
Exacrs397514659
Varsomers397514659
Maprs397514659
PheGenIrs397514659
hapmaprs397514659
1000 genomesrs397514659
hgdprs397514659
ensemblrs397514659
gopubmedrs397514659
geneviewrs397514659
scholarrs397514659
googlers397514659
pharmgkbrs397514659
gwascentralrs397514659
openSNPrs397514659
23andMers397514659
23andMe allrs397514659
SNP Nexus

SNPshotrs397514659
SNPdbers397514659
MSV3drs397514659
GWAS Ctlgrs397514659
Max Magnitude0
ClinVar
Risk rs397514659(G;G)
Alt rs397514659(G;G)
Reference rs397514659(C;C)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Variation info
Gene MILR1 POLG2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Reversed 1
HGVS NC_000017.10:g.62489087G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033245.4,