Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs2855658
RMDN2 ; CYP1B1
2 38069747 3 prime UTR variant T/C snv 0.49 2
rs756581500
PDGFRA
4 54290319 missense variant G/A snv 8.0E-06 1.4E-05 2
rs1057519700
PDGFRA
4 54277981 missense variant C/A;G snv 1
rs1057519761
KIT
4 54733175 missense variant T/G snv 1
rs1186206565
PECAM1
17 64352432 missense variant C/T snv 1
rs121913265
PDGFRA
4 54285925 missense variant G/T snv 1
rs200871174
MSLN ; MIR662
16 768475 missense variant C/T snv 7.8E-04 3.6E-04 1
rs371828253
CUX1
7 102273431 missense variant C/G snv 2.4E-05 4.2E-05 1
rs75246947
MIR221 ; MIR222
X 45746891 intron variant T/A snv 1
rs756847384
CASP4
11 104944794 missense variant G/C snv 3.2E-05 7.0E-06 1
rs780708976
KIT
4 54727456 missense variant T/A;C snv 1.6E-05 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 23
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv 23
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 17
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 9