Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1426868527 1 20633841 missense variant G/A;T snv 3
rs369634041 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv 2
rs757199733
TTN
2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 2
rs1057519629 16 2498332 missense variant C/G;T snv 2.1E-05 1
rs1417802320 1 7962861 missense variant A/T snv 4.0E-06 1
rs41311141 22 32484019 synonymous variant A/G;T snv 3.4E-02 1
rs45467995 1 20649062 missense variant G/A snv 1
rs55739947 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 1
rs748705829 11 233109 missense variant T/C snv 8.0E-06 1
rs752804472 20 31484309 missense variant G/A;T snv 5.7E-06; 5.7E-06 1
rs756677845 1 20638074 frameshift variant G/- del 1
rs758414077
FTL
19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 1
rs781652026 10 100989789 missense variant G/A;T snv 4.0E-06 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs63751273 0.645 0.280 17 46010389 missense variant C/T snv 42
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs63750424 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 30
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs63750756 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21