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: rs567534295
rs567534295
BRCA1
3 0.882 0.120 17 43048090 intron variant C/T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs12373237
rs12373237
LAMA3
5 0.851 0.200 18 23845972 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3976507
rs3976507
PIK3CA ; KCNMB3
3 0.882 0.120 3 179239995 3 prime UTR variant C/T snv 0.19 0.24 0.010 1.000 1 2019 2019
dbSNP: rs587778617
rs587778617
PMS2
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6443626
rs6443626
PIK3CA ; KCNMB3
4 0.851 0.200 3 179237995 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1801200
rs1801200
ERBB2
7 0.790 0.200 17 39723335 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1836724
rs1836724
ERBB4
6 0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2018 2018