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rs113994099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994099(A;G)
Make rs113994099(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89320883
GenePOLG
is asnp
is mentioned by
dbSNPrs113994099
ebirs113994099
HLIrs113994099
Exacrs113994099
Varsomers113994099
Maprs113994099
PheGenIrs113994099
hapmaprs113994099
1000 genomesrs113994099
hgdprs113994099
ensemblrs113994099
gopubmedrs113994099
geneviewrs113994099
scholarrs113994099
googlers113994099
pharmgkbrs113994099
gwascentralrs113994099
openSNPrs113994099
23andMers113994099
23andMe allrs113994099
SNP Nexus

SNPshotrs113994099
SNPdbers113994099
MSV3drs113994099
GWAS Ctlgrs113994099
Max Magnitude0
OMIM174763
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994099(G;G)
Alt rs113994099(G;G)
Reference rs113994099(A;A)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Variation info
Gene POLG
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Reversed 1
HGVS NC_000015.9:g.89864114T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014439.18,