Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519928
rs1057519928
PIK3CA
8 0.807 0.200 3 179221147 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
9 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
18 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
13 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
TP53
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
TP53
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
6 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
20 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
TP53
12 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs760043106
rs760043106
TP53
18 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs765848205
rs765848205
TP53
12 0.763 0.240 17 7674253 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
TP53
15 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
TP53
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
TP53
21 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
TP53
16 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
TP53
11 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs764449808
rs764449808
STK11
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016