Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv 5
rs267607040
SETBP1
0.851 0.320 18 44951948 missense variant G/A snv 5
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 15
rs1265794840
ERCC2
0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 6
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs4898
TIMP1 ; SYN1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs387906717
WAS
0.827 0.120 X 48688403 missense variant T/C snv 6
rs893810317
GATA1
X 48793910 missense variant C/T snv 1
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 4
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 13
rs781517199
UBE2V1 ; TMEM189-UBE2V1
20 50082788 missense variant C/G snv 4.0E-06 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs767232094
MMP2
1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06 2
rs1464681682
LOC102724701 ; U2AF1L5 ; LOC102724843
0.882 0.160 21 6486334 missense variant T/C;G snv 6
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79