Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906315
GBA
0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 8
rs1566823361 0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs201435717 1.000 0.040 6 122472555 intron variant -/T delins 9.1E-03 1
rs200956582 1.000 0.040 11 5637380 intron variant A/- del 7.7E-03 1
rs4646 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs3813034 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 8
rs112422930 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 4
rs7840202 0.851 0.160 8 102296172 intron variant A/C snv 0.21 4
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs876660634 0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs63750306 0.701 0.320 14 73173663 missense variant A/C;G;T snv 17
rs28936379 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 10
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs80265967 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 16
rs3764435 0.827 0.120 9 72901960 intron variant A/C;T snv 5
rs184904296 1.000 0.040 3 112431166 intergenic variant A/C;T snv 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs9340799 0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs57095329 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 25
rs1799990 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 23
rs17125721 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs1108580
DBH
0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 9