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: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
CTNNB1
13 0.724 0.200 3 41224612 missense variant G/A;C 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: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28931589
rs28931589
CTNNB1
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
TP53
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587781991
rs587781991
TP53
17 0.724 0.240 17 7675208 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786205050
rs786205050
CACNA1H
7 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs863224451
rs863224451
TP53
20 0.701 0.440 17 7673796 missense variant C/A;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: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 1 2016 2016