Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv 13
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs121908698
CHEK2
0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 7
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv 5
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 5
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 5