Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691041
TP53
17 7676271 frameshift variant -/A delins 3
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1178981336
C9orf43
1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 2
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv 6
rs867679539
BCORL1
0.925 0.080 X 130013883 missense variant A/C snv 3
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs2308327
MGMT
0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 10
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs1408538785
DNAH8
0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 6
rs752492487
RAD51
15 40718847 missense variant A/G snv 4.0E-06 7.0E-06 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 8
rs2454206
TET2-AS1 ; TET2
0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 6
rs587779821
ATM
1.000 0.080 11 108259059 missense variant A/G;T snv 2
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10