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: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 0 2004 2020
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.820 1.000 0 2005 2016
dbSNP: rs28934576
rs28934576
TP53
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 0 2017 2019
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 0 2005 2005
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 0 2018 2018
dbSNP: rs4647924
rs4647924
FGFR3
30 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
35 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913364
rs121913364
BRAF
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 0 2002 2015
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs1801155
rs1801155
APC
10 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.800 0.861 5 1997 2017
dbSNP: rs121913483
rs121913483
FGFR3
22 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
11 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 4 2002 2019
dbSNP: rs121913105
rs121913105
FGFR3
16 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
15 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs36053993
rs36053993
MUTYH
9 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.800 0.941 5 2002 2019
dbSNP: rs121913286
rs121913286
PIK3CA
20 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs121913400
rs121913400
CTNNB1
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 0 2006 2015
dbSNP: rs121434595
rs121434595
NRAS
13 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.800 0
dbSNP: rs55832599
rs55832599
TP53
13 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs121913224
rs121913224
APC
13 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0