rs138929605, POLG

N. diseases: 3
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.
Depletion of mitochondrial DNA
CUI: C0342782
Disease: Depletion of mitochondrial DNA
7 0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05 0.700 1.000 10 2008 2017
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05 0.700 1.000 7 2008 2015
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05 0.700 0