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: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.800 0
dbSNP: rs121913111
rs121913111
1 1.000 0.080 4 1803725 missense variant G/A snv 0.800 0
dbSNP: rs121917731
rs121917731
MCC
1 1.000 0.080 5 113043623 missense variant G/A snv 0.800 0
dbSNP: rs121917732
rs121917732
MCC
1 1.000 0.080 5 113064110 missense variant C/T snv 1.2E-05 0.800 0
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
1 1.000 0.080 MT 8009 missense variant G/A snv 0.800 0
dbSNP: rs207459996
rs207459996
CYTB ; ND6
1 1.000 0.080 MT 15572 missense variant T/C snv 0.800 0
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.080 MT 10563 missense variant T/C snv 0.800 0
dbSNP: rs28937578
rs28937578
1 1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06 0.800 0
dbSNP: rs387906555
rs387906555
1 1.000 0.080 18 53526629 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.800 0
dbSNP: rs10414971
rs10414971
1 1.000 0.080 19 12351131 missense variant G/A snv 1.9E-03 7.8E-03 0.700 0
dbSNP: rs1043397364
rs1043397364
1 1.000 0.080 16 89637349 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs1057519739
rs1057519739
2 1.000 0.080 18 51065518 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519895
rs1057519895
17 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519930
rs1057519930
1 1.000 0.080 3 179199142 missense variant G/T snv 0.700 0
dbSNP: rs1057520038
rs1057520038
2 0.925 0.160 19 1220627 missense variant G/A snv 0.700 0
dbSNP: rs1114167806
rs1114167806
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
dbSNP: rs112028242
rs112028242
1 1.000 0.080 8 144474963 missense variant T/A snv 5.7E-03 2.3E-02 0.700 0
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs115907611
rs115907611
1 1.000 0.080 10 48187279 missense variant G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs117497341
rs117497341
1 1.000 0.080 7 142751983 missense variant C/G;T snv 4.0E-06; 6.8E-04 0.700 0
dbSNP: rs1178207005
rs1178207005
1 1.000 0.080 5 157509314 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1183385193
rs1183385193
1 1.000 0.080 16 23186443 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1184760254
rs1184760254
1 1.000 0.080 10 49493167 missense variant G/C snv 0.700 0