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: rs138350727
rs138350727
2 1.000 0.080 3 193626153 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs672601368
rs672601368
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397515508
rs397515508
ND1 ; ND2
4 0.925 0.160 MT 3700 missense variant G/A snv 0.700 0
dbSNP: rs772410450
rs772410450
5 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs201650281
rs201650281
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs1057516062
rs1057516062
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1 1.000 0.080 MT 8418 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0