Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852538 0.925 0.080 X 78117385 missense variant A/T snv 3
rs1426868527 1 20633841 missense variant G/A;T snv 3
rs1555727942 0.925 0.160 19 15180807 missense variant G/A snv 3
rs63751165 0.925 0.120 17 46010401 missense variant G/A;T snv 3
rs74315360 0.925 0.040 1 20638104 missense variant C/A snv 3
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv 2
rs1239756674 1.000 0.040 X 43743818 synonymous variant G/A snv 2
rs2421947 1.000 0.040 1 171863954 intron variant C/G;T snv 2
rs63750680 1.000 0.080 14 73198076 missense variant T/C snv 2
rs45467995 1 20649062 missense variant G/A snv 1
rs756677845 1 20638074 frameshift variant G/- del 1
rs781652026 10 100989789 missense variant G/A;T snv 4.0E-06 1
rs1417802320 1 7962861 missense variant A/T snv 4.0E-06 1
rs761807915 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 4
rs542171324 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 6
rs104894685
FTL
0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 4
rs104893875 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 13
rs121918304 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 4
rs1290141855 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 3
rs767543900 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 10
rs5569 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs369634041 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs74315356 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 3
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs762999184 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 2