Source: BEFREE ×
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: rs41293463
rs41293463
BRCA1
6 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 4 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2004 2016
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.040 1.000 4 2005 2009
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2005 2011
dbSNP: rs1462893414
rs1462893414
ESR1
5 0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2007
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs146312682
rs146312682
LIMD1
1 3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1239905891
rs1239905891
IGF1
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1800470
rs1800470
TGFB1
106 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs35490896
rs35490896
CLSPN
3 0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs8133052
rs8133052
CBR3 ; CBR3-AS1
6 0.925 0.120 21 36135203 missense variant G/A;C snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
3 0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs753535070
rs753535070
MUC1
5 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11249433
rs11249433
EMBP1
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs1213469537
rs1213469537
CAV1
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs555016384
rs555016384
CCR6
1 6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs587782137
rs587782137
BRCA2
1 13 32316471 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs730881360
rs730881360
ATM
1 11 108227629 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010