rs201477273, POLG

N. diseases: 5
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.
Ataxia, Spinocerebellar
CUI: C0087012
Disease: Ataxia, Spinocerebellar
4 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 7 2008 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 4 2007 2013
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 3 2007 2010
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 3 2007 2010
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.010 1.000 1 2018 2018