Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv 4
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519789
DDR2
1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 1
rs1057519790
DDR2
1.000 0.080 1 162778617 missense variant G/T snv 1
rs144594252
DDR2
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 1
rs376303676
DDR2
1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 1
rs578015216
DDR2
1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 1
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv 4
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 3
rs150036236
EGFR
0.925 0.080 7 55191741 missense variant G/A snv 4.8E-05 3.5E-05 2
rs397517097
EGFR
0.851 0.080 7 55174777 missense variant T/C snv 2
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3