Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517574
BRCA1
1.000 17 43090983 stop gained G/A;T snv 1
rs1057517590
BRCA1
1.000 17 43063370 frameshift variant A/- del 2
rs1057517637
BRCA1
1.000 17 43047669 frameshift variant -/C delins 4.0E-06 1
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins 3
rs1057518639
BRCA1
0.925 0.200 17 43070951 missense variant A/G snv 2
rs1057519558
BRCA1
0.925 0.200 17 43082518 stop gained C/A;G;T snv 2
rs1060502327
BRCA1
0.925 0.200 17 43099877 splice acceptor variant C/- delins 2
rs1060502332
BRCA1
0.925 0.200 17 43093401 frameshift variant A/TT delins 2
rs1060502333
BRCA1
0.882 0.200 17 43093322 frameshift variant T/- delins 3
rs1060502334
BRCA1
0.925 0.200 17 43093258 stop gained A/T snv 2
rs1060502345
BRCA1
0.925 0.200 17 43091465 frameshift variant GAT/A delins 2
rs1060502354
BRCA1
0.925 0.200 17 43093214 frameshift variant GTACCAA/- del 2
rs1060502356
BRCA1
0.925 0.200 17 43057046 splice donor variant ACCTTT/- delins 2
rs1060502359
BRCA1
0.925 0.200 17 43094643 frameshift variant GTCT/- delins 2
rs1060502360
BRCA1
0.925 0.200 17 43094787 frameshift variant G/- delins 2
rs1060502362
BRCA1
0.925 0.200 17 43099855 frameshift variant GTTGGACA/- delins 2
rs1060505044
BRCA1
1.000 17 43070942 frameshift variant T/- del 1
rs1060505045
BRCA1
1.000 17 43094244 frameshift variant T/- del 1
rs1060505047
BRCA1
1.000 17 43091696 frameshift variant C/- delins 1
rs1060505048
BRCA1
0.925 0.200 17 43045736 frameshift variant T/- del 3
rs1060505050
BRCA1
1.000 17 43094096 frameshift variant CA/- del 1
rs1060505051
BRCA1
1.000 17 43091883 frameshift variant AAGTT/- delins 2
rs1060505052
BRCA1
1.000 17 43099812 frameshift variant C/- delins 1
rs1064792958
BRCA1
0.925 0.200 17 43094724 frameshift variant CAAGTTTGAAAC/T delins 2
rs1064793059
BRCA1
1.000 17 43045737 frameshift variant AG/- delins 1