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rs267606959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606959(C;T)
Make rs267606959(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89318986
GenePOLG
is asnp
is mentioned by
dbSNPrs267606959
dbSNP (classic)rs267606959
ClinGenrs267606959
ebirs267606959
HLIrs267606959
Exacrs267606959
Gnomadrs267606959
Varsomers267606959
LitVarrs267606959
Maprs267606959
PheGenIrs267606959
Biobankrs267606959
1000 genomesrs267606959
hgdprs267606959
ensemblrs267606959
geneviewrs267606959
scholarrs267606959
googlers267606959
pharmgkbrs267606959
gwascentralrs267606959
openSNPrs267606959
23andMers267606959
SNPshotrs267606959
SNPdbers267606959
MSV3drs267606959
GWAS Ctlgrs267606959
Max Magnitude0
ClinVar
Risk rs267606959(T;T)
Alt rs267606959(T;T)
Reference Rs267606959(C;C)
Significance Pathogenic
Disease Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B not provided
Variation info
Gene POLG
CLNDBN Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided
Reversed 1
HGVS NC_000015.9:g.89862217G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014470.26, RCV000014471.25, RCV000188673.3,