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
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
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
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv 9
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7
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
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 5
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv 5
rs587781629
BRCA2
0.851 0.200 13 32333388 splice donor variant G/A snv 5
rs587781803
BRCA2
0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 5
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv 5
rs80359380
BRCA2
0.851 0.200 13 32337618 frameshift variant -/T;TT delins 5
rs80359405
BRCA2
0.851 0.200 13 32338201 frameshift variant GT/- delins 5
rs80359406
BRCA2
0.851 0.200 13 32338209 frameshift variant AAAA/-;A;AA;AAA;AAAAA delins 7.0E-06 5
rs80359477
BRCA2
0.851 0.200 13 32339386 frameshift variant AA/-;A delins 5