Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35766612
rs35766612
TGFBR2
1 3 30672342 missense variant G/A;T snv 1.0E-03; 3.5E-04 0.700 0
dbSNP: rs397507396
rs397507396
BRCA2
3 0.925 0.200 13 32363405 frameshift variant CC/-;C;CCC delins 0.700 0
dbSNP: rs397507644
rs397507644
BRCA2
2 1.000 13 32337198 frameshift variant T/- delins 0.700 0
dbSNP: rs397507649
rs397507649
BRCA2
2 1.000 13 32337345 stop gained T/A;G snv 0.700 0
dbSNP: rs397507967
rs397507967
BRCA2
2 1.000 13 32363397 stop gained T/A;G snv 0.700 0
dbSNP: rs397509160
rs397509160
BRCA1
2 1.000 17 43082474 stop gained G/A;T snv 0.700 0
dbSNP: rs397509173
rs397509173
BRCA1
4 0.925 0.200 17 43104120 splice donor variant A/C;G;T snv 0.700 0
dbSNP: rs398122630
rs398122630
BRCA1
3 0.925 0.200 17 43094204 stop gained T/A snv 0.700 0
dbSNP: rs483353077
rs483353077
BRCA2
3 1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins 0.700 0
dbSNP: rs587776416
rs587776416
PALB2
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
dbSNP: rs587782620
rs587782620
TP53
1 17 7675185 missense variant C/A;T snv 0.700 0
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs80356923
rs80356923
BRCA1
5 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 0
dbSNP: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356978
rs80356978
BRCA1
7 0.827 0.200 17 43092809 stop gained C/A;T snv 0.700 0
dbSNP: rs80357006
rs80357006
BRCA1
4 0.925 0.200 17 43092274 stop gained A/C;G;T snv 1.2E-05 0.700 0
dbSNP: rs80357086
rs80357086
BRCA1
8 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0
dbSNP: rs80357123
rs80357123
BRCA1
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
5 0.882 0.200 17 43124096 start lost T/C snv 0.700 0
dbSNP: rs80357310
rs80357310
BRCA1
4 0.925 0.200 17 43091870 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs80357382
rs80357382
BRCA1
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 0
dbSNP: rs80357706
rs80357706
BRCA1
4 0.925 0.200 17 43093125 frameshift variant CA/- delins 4.0E-06 0.700 0
dbSNP: rs80357714
rs80357714
BRCA1
4 0.925 0.200 17 43094150 frameshift variant -/T delins 0.700 0