Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
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
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs730882025
TP53
0.724 0.360 17 7674885 missense variant C/A;G;T snv 21
rs863224683
TP53
17 7675224 missense variant G/A;C snv 4
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs763351020
SERPINE1
0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 35
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 6
rs1418016570
PRKN
6 161973326 missense variant G/C snv 4.0E-06 1
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs3856806
PPARG
0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 41
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs786202567
PMS2
1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 5
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71