Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1458974438
STK11
0.807 0.080 19 1206957 missense variant G/A snv 9
rs756340448
ERCC2
0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 7.0E-06 8
rs344781
PLAUR
0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 7
rs59912467
STK11
0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 7
rs1057520018
STK11
0.807 0.080 19 1223124 missense variant T/C snv 6
rs5491
ICAM1
0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 6
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs454421
KLC3
1.000 0.040 19 45341392 intron variant C/G;T snv 0.44 1
rs7250795
ZNF763 ; ZNF69
1.000 0.040 19 11978928 missense variant C/G;T snv 4.0E-06; 1.7E-02 1
rs1050631
SLC39A6
0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 4
rs8305
POLI
0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 4
rs2847281
PTPN2
1.000 0.040 18 12821594 intron variant A/G snv 0.32 3
rs7242481
ELP2 ; SLC39A6
0.925 0.080 18 36129254 5 prime UTR variant G/A snv 0.35 2
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs587782289
TP53
0.752 0.240 17 7674257 missense variant A/C;G;T snv 15
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 12
rs8067378 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 12
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 9
rs7208422
TMC8
0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 6
rs10491121
LOC101927369 ; CCL4
0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 5