Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs781652026 10 100989789 missense variant G/A;T snv 4.0E-06 1
rs55739947 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 1
rs367543041 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 15
rs139548132 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 2
rs1224426272
CIT
0.925 0.040 12 119869138 missense variant C/T snv 6
rs12817488 1.000 0.040 12 122811747 intron variant G/A snv 0.39 3
rs387907571 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 6
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv 2
rs1555727942 0.925 0.160 19 15180807 missense variant G/A snv 3
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs369634041 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs368134308 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 4
rs2421947 1.000 0.040 1 171863954 intron variant C/G;T snv 2
rs757199733
TTN
2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 2
rs113388242 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 3
rs112176450 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 7
rs774457232 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 3
rs4606 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 16
rs1426868527 1 20633841 missense variant G/A;T snv 3
rs775809722 1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05 2
rs756677845 1 20638074 frameshift variant G/- del 1
rs74315360 0.925 0.040 1 20638104 missense variant C/A snv 3