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: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 1998 2005
dbSNP: rs3824999
rs3824999
POLD3
9 0.790 0.080 11 74634505 intron variant T/G snv 0.40 0.700 1.000 4 2012 2019
dbSNP: rs4813802
rs4813802 		11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.700 1.000 3 2019 2019
dbSNP: rs73208120
rs73208120
NOS1
9 0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02 0.700 1.000 2 2015 2019
dbSNP: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2738783
rs2738783
RTEL1 ; RTEL1-TNFRSF6B
11 0.763 0.160 20 63677259 intron variant T/G snv 0.85 0.700 1.000 1 2019 2019
dbSNP: rs28840750
rs28840750
RHPN2
10 0.776 0.080 19 33029021 intron variant T/G snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs4143094
rs4143094
GATA3
12 0.752 0.240 10 8047173 intron variant T/G snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs73039434
rs73039434
RHPN2
9 0.790 0.080 19 33034013 intron variant T/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs9831861
rs9831861 		9 0.790 0.080 3 53054269 intron variant T/G snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs121913272
rs121913272
PIK3CA
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2014 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519941
rs1057519941
PIK3CA
10 0.776 0.240 3 179203761 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913370
rs121913370
BRAF
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1445011
rs1445011 		9 0.790 0.080 5 40280100 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019