Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv 6
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 4
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 3
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79 2
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs2234767
FAS ; ACTA2
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs3888565
ABCC1
1.000 0.080 16 16089188 intron variant G/A snv 0.25 1
rs4148353
ABCC1
1.000 0.080 16 16077291 intron variant G/A;T snv 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 2
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359200
BRCA2
0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 12
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 11
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 11
rs80358972
BRCA2
0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 11
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs80358557
BRCA2
0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 10
rs80358893
BRCA2
0.763 0.320 13 32341011 stop gained C/G snv 10
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 9