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 0.750 1.000 7 2002 2015
dbSNP: rs121913529
rs121913529
KRAS
19 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 8 2005 2011
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 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 0.700 0
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 2005 2016
dbSNP: rs121913530
rs121913530
KRAS
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 2 2008 2011
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121913273
rs121913273
PIK3CA
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 2 2005 2012
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: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 0 2011 2011
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 3 2001 2010
dbSNP: rs121912664
rs121912664
TP53
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934575
rs28934575
TP53
25 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397516436
rs397516436
TP53
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.710 1.000 0 1998 1998
dbSNP: rs886039484
rs886039484
TP53
10 0.641 0.440 17 7674888 missense variant T/C;G snv 0.700 0
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 2 2005 2012
dbSNP: rs121912666
rs121912666
TP53
24 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs28934571
rs28934571
TP53
4 0.645 0.360 17 7674216 missense variant C/A;G snv 0.700 0
dbSNP: rs760043106
rs760043106
TP53
18 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 0
dbSNP: rs112445441
rs112445441
KRAS
8 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 2 2008 2011
dbSNP: rs28934574
rs28934574
TP53
27 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121912656
rs121912656
TP53
20 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs764146326
rs764146326
TP53
20 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.700 0