Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3135500 0.851 0.160 16 50732975 3 prime UTR variant G/A snv 0.44 5
rs12817488 1.000 0.040 12 122811747 intron variant G/A snv 0.39 3
rs242557 0.752 0.200 17 45942346 intron variant G/A snv 0.36 12
rs2942168 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 4
rs63750072 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 3
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs55739947 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 1
rs71653619 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 4
rs41549716 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 4
rs113994097 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs34778348 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 15
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs112176450 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 7
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 3
rs111501952 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 2
rs201106962 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 5
rs113388242 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 3
rs387907571 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 6
rs28940285 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 2
rs752078407 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 3
rs45539432 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 5
rs758414077
FTL
19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 1
rs121908683 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 5
rs104894685
FTL
0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 4
rs34015634 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8