Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 1
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs1555913881
CHEK2
22 28695841 frameshift variant T/- del 1
rs587780170
CHEK2
0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 1
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv 13
rs80338963
SMAD4
0.776 0.280 18 51065548 missense variant C/A;G;T snv 11
rs1057520015
ROCK1
1.000 0.080 18 20955181 missense variant G/A snv 2
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
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25