Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2057482
HIF1A-AS2 ; HIF1A-AS3 ; HIF1A
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs55958994
KRT8
0.925 0.080 12 52907235 intron variant C/T snv 0.12 3
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs367597251
MDM2
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 10
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs773862672
MTOR
0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs767808984
NKX2-1-AS1 ; SFTA3 ; NKX2-1
0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 9
rs121917887
NME1-NME2 ; NME1
0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs201216664
NME1-NME2 ; NME2
0.851 0.080 17 51171503 missense variant A/G snv 5
rs1285136498
NR3C1
0.807 0.080 5 143400101 missense variant G/A snv 13
rs11672691
PCAT19
0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29