Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs12817488 1.000 0.040 12 122811747 intron variant G/A snv 0.39 3
rs1224426272
CIT
0.925 0.040 12 119869138 missense variant C/T snv 6
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv 2
rs886039227 0.925 0.200 2 74378123 missense variant A/C snv 4
rs387907571 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 6
rs2421947 1.000 0.040 1 171863954 intron variant C/G;T snv 2
rs112176450 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 7
rs113388242 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 3
rs774457232 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 3
rs121918304 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 4
rs762999184 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 2
rs41311141 22 32484019 synonymous variant A/G;T snv 3.4E-02 1
rs104894685
FTL
0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 4
rs758414077
FTL
19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 1
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
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
rs1555507479 0.807 0.160 16 56336799 missense variant C/A snv 12
rs772784579
GRN
1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 2
rs2942168 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 4
rs55739947 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 1
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78