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
rs12498609
TET2-AS1 ; TET2
4 105234028 missense variant C/G;T snv 6.3E-02; 4.0E-06 1
rs228593
ATM
11 108270407 intron variant G/A snv 0.27 1
rs3746609
ASXL1
20 32434666 missense variant G/A snv 1.9E-02; 4.4E-06 7.4E-03 1
rs72661120
TP53
17 7673717 synonymous variant T/C snv 2.7E-04 7.0E-05 1
rs752492487
RAD51
15 40718847 missense variant A/G snv 4.0E-06 7.0E-06 1
rs775743629
PRKN
6 162262719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 1
rs781517199
UBE2V1 ; TMEM189-UBE2V1
20 50082788 missense variant C/G snv 4.0E-06 1
rs893810317
GATA1
X 48793910 missense variant C/T snv 1
rs138817062
PML
0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 4
rs1178981336
C9orf43
1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 2
rs142883642
IDH1
1.000 0.040 2 208248486 missense variant T/C snv 3.6E-05 2.1E-05 2
rs767232094
MMP2
1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06 2
rs869312828
DDX41 ; DOK3
0.807 0.080 5 177512369 missense variant C/T snv 7
rs1408538785
DNAH8
0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 6
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv 6
rs4135113
TDG
0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 5
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 4
rs751689316
MECOM
0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 4
rs762622506
BCOR
0.925 0.080 X 40074459 missense variant C/A;T snv 6.1E-06 3
rs867679539
BCORL1
0.925 0.080 X 130013883 missense variant A/C snv 3
rs587779821
ATM
1.000 0.080 11 108259059 missense variant A/G;T snv 2
rs1805388
LIG4
0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 11
rs121913488
FLT3
0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs387906717
WAS
0.827 0.120 X 48688403 missense variant T/C snv 6