Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs57221529 1.000 0.120 5 586509 regulatory region variant A/G snv 0.16 1
rs5952223 1.000 0.120 X 116255308 intergenic variant C/T snv 0.29 1
rs7879546 1.000 0.120 X 116217020 intergenic variant T/C snv 1
rs871799 1.000 0.120 1 203200743 intergenic variant C/G snv 0.18 1
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 10
rs61750120
ABCA4
0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 4
rs779426136
ABCA4
0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 2
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs373533
ADGRE1 ; LOC105372256
0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 2
rs9300298
ADIPOR2
1.000 0.120 12 1757038 intron variant T/A snv 0.55 1
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs1078761
BPIFB1
1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 2
rs80357113
BRCA1
0.925 0.200 17 43094281 missense variant T/C snv 2
rs4363087
BUD23 ; STX1A ; LOC105375350
0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 3
rs747607158
CFI
1.000 0.120 4 109740999 missense variant T/C snv 1
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 18
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 18
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 10