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: 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: 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: rs587781321
rs587781321
BRIP1
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
dbSNP: rs121913366
rs121913366
BRAF
6 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 4 2002 2012
dbSNP: rs397517201
rs397517201
PIK3CA
14 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 4 2006 2010
dbSNP: rs587778134
rs587778134
BRIP1
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs587780226
rs587780226
BRIP1
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 1.000 4 2016 2017
dbSNP: rs779741278
rs779741278
BRIP1
2 0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 2010 2016
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: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 3 2001 2010
dbSNP: rs786202610
rs786202610
BRIP1
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 3 2015 2016
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: rs1057519365
rs1057519365
BRIP1
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016
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: rs121913273
rs121913273
PIK3CA
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 2 2005 2012
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: 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: rs121913286
rs121913286
PIK3CA
20 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 2 2005 2012
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: rs587781292
rs587781292
BRIP1
4 0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2014 2015
dbSNP: rs121913353
rs121913353
BRAF
2 0.925 0.160 7 140781612 missense variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913400
rs121913400
CTNNB1
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913403
rs121913403
CTNNB1
13 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555578360
rs1555578360
BRCA1
1 1.000 0.120 17 43063353 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs1555587401
rs1555587401
BRCA1
1 1.000 0.120 17 43091910 frameshift variant C/- del 0.700 1.000 1 2004 2004