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: rs10260419
rs10260419
THSD7A
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs111478044
rs111478044
NCAM2
1 1.000 0.120 21 21308069 intron variant TA/-;TATA delins 0.700 1.000 1 2019 2019
dbSNP: rs111970895
rs111970895 		1 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs11973028
rs11973028
JAZF1
1 1.000 0.120 7 27853217 intron variant C/T snv 0.44 0.700 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: 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: rs144199732
rs144199732 		1 1.000 0.120 X 43022624 intergenic variant C/T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs145022376
rs145022376
ADARB2 ; LINC00200
1 1.000 0.120 10 1186289 intron variant C/- delins 9.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs169225
rs169225 		1 1.000 0.120 20 22393040 intron variant T/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs1791890
rs1791890
LOC107984393
1 1.000 0.120 11 116120763 intergenic variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs185652178
rs185652178
JAKMIP2-AS1
1 1.000 0.120 5 147579243 intron variant C/T snv 2.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs1934363
rs1934363
LINC02652
1 1.000 0.120 10 28484549 intron variant G/C snv 0.18 0.700 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: rs34097398
rs34097398 		1 1.000 0.120 X 33452415 intergenic variant A/-;AA;AAA;AAAA;AAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs34344307
rs34344307 		1 1.000 0.120 16 77008512 intergenic variant TTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs34357515
rs34357515
NCLN
1 1.000 0.120 19 3197622 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 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: rs59923016
rs59923016
ZNF423
1 1.000 0.120 16 49765545 intron variant CA/-;CACA;CACACA;CACACACA;CACACACACA delins 0.700 1.000 1 2019 2019
dbSNP: rs6134303
rs6134303 		1 1.000 0.120 20 11586401 intergenic variant T/G snv 0.67 0.700 1.000 1 2019 2019