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rs121918055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918055(A;A)
Make rs121918055(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89326965
GeneMIR6766, POLG
is asnp
is mentioned by
dbSNPrs121918055
ebirs121918055
HLIrs121918055
Exacrs121918055
Varsomers121918055
Maprs121918055
PheGenIrs121918055
hapmaprs121918055
1000 genomesrs121918055
hgdprs121918055
ensemblrs121918055
gopubmedrs121918055
geneviewrs121918055
scholarrs121918055
googlers121918055
pharmgkbrs121918055
gwascentralrs121918055
openSNPrs121918055
23andMers121918055
23andMe allrs121918055
SNP Nexus

SNPshotrs121918055
SNPdbers121918055
MSV3drs121918055
GWAS Ctlgrs121918055
Max Magnitude0
OMIM174763
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918055(A;A)
Alt rs121918055(A;A)
Reference rs121918055(G;G)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Variation info
Gene MIR6766 POLG
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Reversed 1
HGVS NC_000015.9:g.89870196C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014468.18,