Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1884444 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs7530511 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 12
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 10
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs559063155 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs11568350 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 9
rs1559810905 0.827 0.240 2 162273810 missense variant T/A snv 9
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
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 9
rs708567 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 6
rs6780995 0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 2
rs1375515 1.000 0.040 3 54442613 intron variant C/T snv 0.58 1
rs1868505 1.000 0.040 3 54387228 intron variant T/C snv 0.86 1
rs4833095 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 28