Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767606327
MTTP
4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06 2
rs1245554802
CAMK1 ; OGG1
0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 5
rs771306418
CAMK1 ; OGG1
0.851 0.120 3 9765885 splice acceptor variant -/C delins 5
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 13
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50 14
rs6886
CAPG
0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 4
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
rs863224683
TP53
17 7675224 missense variant G/A;C snv 4
rs730882025
TP53
0.724 0.360 17 7674885 missense variant C/A;G;T snv 21
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
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
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
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7