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: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs11540654
rs11540654
TP53
4 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 0
dbSNP: rs11575997
rs11575997
TP53
2 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1195793509
rs1195793509
TP53
1 1.000 0.120 17 7676210 stop gained -/CATT delins 0.700 0
dbSNP: rs1202793339
rs1202793339
TP53
1 1.000 0.120 17 7674972 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1206165503
rs1206165503
TP53
2 0.925 0.160 17 7675175 stop gained C/T snv 0.700 0
dbSNP: rs1212996409
rs1212996409
TP53
1 1.000 0.120 17 7675197 stop gained T/A;C snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121912652
rs121912652
TP53
4 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.700 0
dbSNP: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121912656
rs121912656
TP53
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121912658
rs121912658
TP53
2 0.925 0.200 17 7676011 stop gained T/A;C;G snv 0.700 0
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs121913272
rs121913272
PIK3CA
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 0
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121913287
rs121913287
PIK3CA
12 0.752 0.400 3 179199088 missense variant G/A snv 0.700 0
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs121913344
rs121913344
TP53
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 0
dbSNP: rs1267047192
rs1267047192
TP53
1 1.000 0.120 17 7675997 frameshift variant -/C delins 0.700 0
dbSNP: rs1314180672
rs1314180672
CHEK1
1 1.000 0.120 11 125627605 splice acceptor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1327418487
rs1327418487
MRPS18C ; ABRAXAS1
1 1.000 0.120 4 83462555 frameshift variant -/T delins 7.0E-05 0.700 0