Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs900147 11 13272293 upstream gene variant G/A snv 0.62 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs869312713 0.882 0.320 16 89280070 stop gained C/A snv 6
rs200455852 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs606231435 0.827 0.240 19 41970539 missense variant C/T snv 18
rs146170087 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs515726205 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs80338777 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 10
rs1057524157 0.776 0.200 11 686962 missense variant A/C;T snv 19
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs104894158 0.851 0.080 10 62813835 missense variant A/T snv 5
rs3810651 0.925 0.080 X 152652814 missense variant A/C;T snv 4
rs1564282
GAK
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 3
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
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 52
rs76732092 11 18358030 missense variant C/A snv 1
rs786205232 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs34016896 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 3
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs281865051 1.000 0.040 12 40319998 missense variant T/C snv 2