rs778573169, POLG

N. diseases: 2
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.
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05 0.700 1.000 2 2011 2013
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05 0.700 1.000 1 2011 2011