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: rs121913409
rs121913409
CTNNB1
9 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.820 1.000 1 2016 2018
dbSNP: rs121913407
rs121913407
CTNNB1
10 0.763 0.240 3 41224645 missense variant T/C;G snv 0.810 1.000 1 2015 2016
dbSNP: rs121913413
rs121913413
CTNNB1
9 0.763 0.240 3 41224634 missense variant C/A;T snv 0.810 1.000 1 2015 2016
dbSNP: rs121913228
rs121913228
CTNNB1
11 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 1 2005 2016
dbSNP: rs121913396
rs121913396
CTNNB1
11 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
CTNNB1
10 0.724 0.200 3 41224612 missense variant G/A;C snv 0.800 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
CTNNB1
13 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
CTNNB1
10 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs28931588
rs28931588
CTNNB1
14 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.800 1.000 1 2016 2016
dbSNP: rs28934571
rs28934571
TP53
4 0.645 0.360 17 7674216 missense variant C/A;G snv 0.800 1.000 0 1994 2020
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.730 1.000 1 2008 2019
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 1 2008 2019
dbSNP: rs121912654
rs121912654
TP53
3 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.720 1.000 0 2011 2011
dbSNP: rs28931589
rs28931589
CTNNB1
13 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.710 1.000 1 2004 2016
dbSNP: rs121912656
rs121912656
TP53
20 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2012 2016
dbSNP: rs121912666
rs121912666
TP53
24 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.710 1.000 1 2016 2019
dbSNP: rs121913273
rs121913273
PIK3CA
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 1 2008 2016
dbSNP: rs121913499
rs121913499
IDH1
16 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2016 2017
dbSNP: rs375874539
rs375874539
TP53
11 0.732 0.320 17 7674237 missense variant G/A;C snv 0.710 0.500 1 2009 2016
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 < 0.001 0 2017 2017
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 3 2004 2016