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: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2017 2017
dbSNP: rs10825036
rs10825036 		3 0.882 0.080 10 53506471 intergenic variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 < 0.001 1 2014 2014
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1442481831
rs1442481831
PIK3CA
2 0.925 0.080 3 179203635 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1484791833
rs1484791833
ERBB4
2 0.925 0.080 2 211713624 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs166870
rs166870 		3 0.882 0.080 15 79777420 intergenic variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs186919241
rs186919241
PTPN11
2 0.925 0.080 12 112502165 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28933368
rs28933368
ERBB2 ; MIR4728
5 0.851 0.080 17 39725721 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs387907158
rs387907158
PTPN11
3 0.882 0.160 12 112450475 stop gained A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs758204762
rs758204762
ERBB2
2 0.925 0.080 17 39712330 missense variant G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs759478535
rs759478535
ERBB2
6 0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 < 0.001 1 2012 2012