Source: ALL
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: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 25 1994 2017
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 25 1994 2017
dbSNP: rs80358507
rs80358507
BRCA2
1 1.000 0.080 13 32319250 missense variant T/A;C;G snv 2.4E-05; 8.0E-06 0.700 1.000 25 1997 2014
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.800 1.000 24 2007 2018
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.740 0.958 24 1994 2017
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.730 1.000 23 1994 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.100 0.727 22 2003 2019
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.710 1.000 21 1994 2017
dbSNP: rs80358755
rs80358755
BRCA2
2 0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.710 1.000 21 1997 2016
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 20 2006 2019
dbSNP: rs1450793674
rs1450793674
BRCA1
1 1.000 0.080 17 43091642 missense variant A/G;T snv 4.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs28897716
rs28897716
BRCA2
1 1.000 0.080 13 32337158 missense variant G/A;C;T snv 6.1E-04; 6.4E-05 0.700 1.000 20 1997 2006
dbSNP: rs28897749
rs28897749
BRCA2
3 0.882 0.120 13 32363384 missense variant G/A;C snv 2.1E-03; 4.0E-06 0.700 1.000 20 1997 2006
dbSNP: rs397507232
rs397507232
BRCA1
1 1.000 0.080 17 43076516 missense variant T/A snv 4.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs397507615
rs397507615
BRCA2
1 1.000 0.080 13 32319200 missense variant C/T snv 4.0E-06 0.700 1.000 20 1997 2006
dbSNP: rs397507620
rs397507620
BRCA2
1 1.000 0.080 13 32336542 missense variant A/G snv 0.700 1.000 20 1997 2006
dbSNP: rs397507795
rs397507795
BRCA2
1 1.000 0.080 13 32340015 missense variant C/G;T snv 2.4E-05 0.700 1.000 20 1997 2006
dbSNP: rs397507875
rs397507875
BRCA2
1 1.000 0.080 13 32341020 missense variant A/G snv 1.6E-05 0.700 1.000 20 1997 2006
dbSNP: rs397508057
rs397508057
BRCA2
1 1.000 0.080 13 32319103 missense variant T/C snv 0.700 1.000 20 1997 2006
dbSNP: rs398122784
rs398122784
BRCA2
1 1.000 0.080 13 32339094 missense variant G/A snv 0.700 1.000 20 1997 2006
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs55688530
rs55688530
BRCA1
1 1.000 0.080 17 43097280 missense variant G/A;T snv 6.9E-04 0.700 1.000 20 1994 2017
dbSNP: rs56204128
rs56204128
BRCA2
1 1.000 0.080 13 32394785 missense variant T/C;G snv 1.6E-05 0.700 1.000 20 1997 2006
dbSNP: rs56214134
rs56214134
BRCA1
2 0.925 0.080 17 43091931 missense variant C/A;G snv 1.2E-04; 2.3E-04 0.700 1.000 20 1994 2017
dbSNP: rs757577670
rs757577670
BRCA2
1 1.000 0.080 13 32336538 missense variant A/C;T snv 4.0E-06 0.700 1.000 20 1997 2006