Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
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
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-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
rs80359031
BRCA2
0.763 0.320 13 32363190 missense variant A/T snv 10
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins 10
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs80356978
BRCA1
0.827 0.200 17 43092809 stop gained C/A;T snv 7
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 7
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 7
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7
rs80356885
BRCA1
0.827 0.200 17 43074482 stop gained C/T snv 6
rs80357446
BRCA1
0.827 0.200 17 43115729 missense variant C/A;T snv 6
rs80357475
BRCA1 ; NBR2
0.827 0.200 17 43124094 start lost C/A;G;T snv 6
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv 6
rs80359180
BRCA2
0.827 0.280 13 32380085 stop gained C/A;G;T snv 6
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs80359351
BRCA2
0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 6
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs886040898
BRCA1
0.827 0.200 17 43115743 stop gained A/C;T snv 6
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 5