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: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 0 2006 2010
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: 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: 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: 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: rs397516436
rs397516436
TP53
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.710 1.000 0 1998 1998
dbSNP: rs41293459
rs41293459
BRCA1
4 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 0 2012 2012
dbSNP: rs876660754
rs876660754
TP53
18 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 0 2017 2017
dbSNP: rs137852986
rs137852986
BRIP1
9 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
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: rs730881649
rs730881649
BRIP1
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 5 2005 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: rs730881645
rs730881645
BRIP1
4 0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05 0.700 1.000 4 2010 2015
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: rs587782410
rs587782410
BRIP1
4 0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05 0.700 1.000 3 2015 2016
dbSNP: rs771028677
rs771028677
BRIP1
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 3 2008 2016
dbSNP: rs786202610
rs786202610
BRIP1
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 3 2015 2016
dbSNP: rs786203717
rs786203717
BRIP1
3 0.925 0.240 17 61684051 frameshift variant CTTT/- delins 1.6E-05 2.8E-05 0.700 1.000 3 2008 2018
dbSNP: rs1057519365
rs1057519365
BRIP1
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016