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rs201936720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201936720(C;C)
Make rs201936720(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position64485733
GenePOLG2
is asnp
is mentioned by
dbSNPrs201936720
ebirs201936720
HLIrs201936720
Exacrs201936720
Varsomers201936720
Maprs201936720
PheGenIrs201936720
hapmaprs201936720
1000 genomesrs201936720
hgdprs201936720
ensemblrs201936720
gopubmedrs201936720
geneviewrs201936720
scholarrs201936720
googlers201936720
pharmgkbrs201936720
gwascentralrs201936720
openSNPrs201936720
23andMers201936720
23andMe allrs201936720
SNP Nexus

SNPshotrs201936720
SNPdbers201936720
MSV3drs201936720
GWAS Ctlgrs201936720
Max Magnitude0
ClinVar
Risk rs201936720(C;C)
Alt rs201936720(C;C)
Reference rs201936720(T;T)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 not specified
Variation info
Gene MILR1 POLG2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 not specified
Reversed 0
HGVS NC_000017.10:g.62481850T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033246.4, RCV000198981.2,