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: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2001 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: 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 0.020 1.000 2 2014 2019
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs10017134
rs10017134
UGT2A1 ; UGT2A2
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1017134
rs1017134 		2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
THSD7A
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1057156
rs1057156
RUVBL1
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs114972508
rs114972508
EGFR ; LOC105375284
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
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: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 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: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs149652370
rs149652370
RUVBL1
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1649942
rs1649942
NRG3
3 0.925 0.120 10 82191935 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 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: rs2303428
rs2303428
MSH2
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs237028
rs237028
TAB2
2 0.925 0.120 6 149397514 intron variant C/T snv 0.58 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: rs370681
rs370681
AXIN1
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 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