Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80357243
BRCA1
17 43063885 missense variant A/C;G snv 2
rs80358146
BRCA1
1.000 17 43104957 splice acceptor variant C/A;T snv 2
rs886037784
BRCA1
1.000 17 43099803 frameshift variant A/- del 2
rs886037785
BRCA1
1.000 17 43091708 frameshift variant TACCT/- delins 2
rs886037786
BRCA1
1.000 17 43094231 frameshift variant -/G delins 2
rs886037787
BRCA1
1.000 17 43092961 stop gained A/T snv 2
rs886037790
BRCA1
1.000 17 43071202 frameshift variant A/- delins 2
rs886040109
BRCA1
1.000 17 43092265 frameshift variant A/- delins 2
rs1131692162
BRCA1
17 43099781 stop gained C/A snv 1
rs1555582520
BRCA1
17 43076486 splice donor variant A/G snv 1
rs397508979
BRCA1
17 43092974 frameshift variant -/GAAAAGTGAA ins 1
rs886037788
BRCA1
17 43091461 frameshift variant -/TCAA ins 1
rs886037789
BRCA1
17 43071159 frameshift variant T/- del 1
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs80358785
BRCA2
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 9
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 8
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs80359351
BRCA2
0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 6
rs587782780
BRCA2
0.925 0.200 13 32336414 frameshift variant GATTA/- del 4.0E-06 4
rs80358529
BRCA2
0.925 0.200 13 32319283 stop gained C/T snv 4
rs80359759
BRCA2
0.925 0.200 13 32394832 frameshift variant G/- delins 4
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 4