Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 9
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 9
rs775387828
NFE2
0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06 7
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 7
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv 6
rs12097901
EGLN1
0.851 0.120 1 231421509 missense variant C/G snv 0.10 0.15 4
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 4
rs62638745
EPOR
0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 3
rs869025650
VHL
0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 3
rs137853036
EPAS1
0.925 0.040 2 46380281 missense variant G/A;T snv 2
rs754190776
HBG2
0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06 2
rs775206089
RUNX1 ; LOC112267915
1.000 0.040 21 34880656 missense variant C/T snv 1.6E-05 2
rs28940301
VHL
0.925 0.040 3 10149894 missense variant C/G snv 2
rs201051019
EPO
1.000 0.040 7 100722981 missense variant G/A snv 1
rs142094773
EPOR
1.000 0.040 19 11378049 missense variant G/A snv 7.7E-03 5.3E-03 1
rs33927093
HBB
1.000 0.040 11 5225620 missense variant G/A;T snv 1
rs35594230
HBB
1.000 0.040 11 5225626 missense variant G/A snv 1
rs771912975
JAK2 ; INSL6
1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 1
rs200351681
TMEM127
1.000 0.040 2 96253927 missense variant G/A;T snv 8.0E-06; 2.8E-05 1
rs200885420
VHL
1.000 0.040 3 10142082 missense variant C/G;T snv 2.2E-05 1