Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs121908117 0.708 0.440 3 48466707 missense variant G/A snv 17
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 15
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 10
rs104894815 0.776 0.120 X 48792337 missense variant G/A snv 9
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs987710 1.000 0.040 22 22158022 intron variant G/A snv 0.61 4
rs41518645
ND6 ; CYTB
0.925 0.200 MT 15257 missense variant G/A snv 3
rs6780995 0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 2
rs368002262
GPI
1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 1
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs10761745 0.882 0.240 10 63341311 intron variant G/C snv 0.87 3
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs1884444 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs104894808 0.851 0.120 X 48792376 missense variant G/T snv 4
rs2071346 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 3
rs1057516674 0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs1559810905 0.827 0.240 2 162273810 missense variant T/A snv 9