Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 10
rs767606327
MTTP
4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06 2
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs3798577
ESR1
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 16
rs1245554802
CAMK1 ; OGG1
0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 5
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv 3
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs2077647
ESR1
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
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
rs6886
CAPG
0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 4
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242