rs121918044, POLG

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.800 1.000 14 2001 2006
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.700 1.000 1 2001 2001
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.700 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.700 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
13 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.700 0
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 0.700 0