Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
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
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 10
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
rs80359014
BRCA2
0.763 0.320 13 32362596 missense variant A/G;T snv 10