Source: ALL
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: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
8 0.807 0.200 3 179221147 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
PIK3CA
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
PIK3CA
13 0.752 0.200 3 179218308 missense variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
5 0.827 0.200 7 151490963 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519958
rs1057519958
RXRA
4 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
CTNNB1
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs28931588
rs28931588
CTNNB1
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
SF3B1
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016