Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118203892
rs118203892
COX1 ; COX2 ; ND2 ; TRNY
1 1.000 0.240 MT 5885 non coding transcript exon variant T/- delins 0.700 0
dbSNP: rs118203893
rs118203893
COX1 ; COX2 ; ND2 ; TRNY
1 1.000 0.240 MT 5877 non coding transcript exon variant C/T snv 0.700 0
dbSNP: rs199474667
rs199474667
ND1 ; ND2 ; TRNL1
1 1.000 0.240 MT 3249 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs200273673
rs200273673
RRM2B
1 1.000 0.240 8 102232231 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs556175571
rs556175571
POLG
1 1.000 0.240 15 89333633 missense variant C/T snv 8.6E-05 0.010 1.000 1 2011 2011