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: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs121913446
rs121913446
EGFR
2 0.925 0.120 7 55174735 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.700 1.000 1 2014 2014
dbSNP: rs1642764
rs1642764
ATP1B2
1 1.000 0.080 17 7654516 intron variant C/T snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs2239815
rs2239815
XBP1
3 0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs28931588
rs28931588
CTNNB1
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs35597309
rs35597309 		2 0.925 0.120 6 32621489 regulatory region variant G/A snv 4.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs61271866
rs61271866
CDKN2A ; CDKN2B-AS1
1 1.000 0.080 9 21997016 intron variant T/A snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs7447927
rs7447927
STING1
1 1.000 0.080 5 139481561 synonymous variant C/G;T snv 0.62; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10138277
rs10138277
HEATR5A
1 1.000 0.080 14 31393927 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1033667
rs1033667
CHEK2
1 1.000 0.080 22 28734312 intron variant C/T snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1042026
rs1042026
ADH1B
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs107822
rs107822
RING1 ; MIR219A1
5 0.827 0.120 6 33207798 upstream gene variant C/T snv 0.27 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2019 2019