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: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs587781629
rs587781629
BRCA2
5 0.851 0.200 13 32333388 splice donor variant G/A snv 0.700 0
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 0
dbSNP: rs1555283322
rs1555283322
BRCA2
3 0.882 0.200 13 32337987 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs869312759
rs869312759
BRCA2
3 0.882 0.200 13 32338043 frameshift variant CT/- delins 0.700 0
dbSNP: rs80359477
rs80359477
BRCA2
5 0.851 0.200 13 32339386 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs80359484
rs80359484
BRCA2
5 0.851 0.200 13 32339483 frameshift variant TGTA/- delins 0.700 0
dbSNP: rs587781803
rs587781803
BRCA2
5 0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 0.700 0
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs431825362
rs431825362
BRCA2
2 0.925 0.080 13 32363187 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80359035
rs80359035
BRCA2
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 0
dbSNP: rs80359705
rs80359705
BRCA2
5 0.851 0.200 13 32363499 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs869312760
rs869312760
BRCA2
3 0.882 0.080 13 32370486 frameshift variant TCGCTTTTCA/- delins 0.700 0
dbSNP: rs397507419
rs397507419
BRCA2
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs80359180
rs80359180
BRCA2
6 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 0
dbSNP: rs80359763
rs80359763
BRCA2
5 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 0
dbSNP: rs431825382
rs431825382
BRCA1
1 1.000 17 43045572 3 prime UTR variant ACAG/- delins 0.700 0
dbSNP: rs397507254
rs397507254
BRCA1
2 1.000 17 43045692 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs80359883
rs80359883
BRCA1
1 1.000 17 43045706 frameshift variant ATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG/- del 0.700 0
dbSNP: rs886040305
rs886040305
BRCA1
1 1.000 17 43045710 frameshift variant GTAGG/- delins 0.700 0
dbSNP: rs886040306
rs886040306
BRCA1
1 1.000 17 43045710 frameshift variant G/- delins 0.700 0
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 9 1994 2015
dbSNP: rs80357336
rs80357336
BRCA1
2 0.925 0.080 17 43045711 stop gained G/C;T snv 0.700 0