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
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73