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: rs1057519928
rs1057519928
PIK3CA
8 0.807 0.200 3 179221147 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
SF3B2
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
10 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 < 0.001 1 2016 2016
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: rs2787486
rs2787486
STXBP4
3 0.925 0.080 17 55132413 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2012 2016
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs1057519986
rs1057519986
TP53
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 10 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 9 2004 2016
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
TP53
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
TP53
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
TP53
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
TP53
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016