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: rs1555280053
rs1555280053
BRCA2
1 1.000 13 32316420 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1060499566
rs1060499566
BRCA2
1 1.000 13 32316421 splice acceptor variant G/A snv 0.700 0
dbSNP: rs80358547
rs80358547
BRCA2
5 0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 0.700 1.000 2 2003 2015
dbSNP: rs80358650
rs80358650
BRCA2
3 0.925 0.200 13 32316463 start lost G/A;T snv 0.700 1.000 7 2008 2019
dbSNP: rs80359418
rs80359418
BRCA2
2 1.000 13 32316463 frameshift variant G/- del 0.700 0
dbSNP: rs397507820
rs397507820
BRCA2
1 1.000 13 32316464 frameshift variant C/- delins 0.700 0
dbSNP: rs397507571
rs397507571
BRCA2
1 1.000 13 32316470 stop gained G/T snv 0.700 0
dbSNP: rs1064795072
rs1064795072
BRCA2
1 1.000 13 32316474 frameshift variant C/- delins 0.700 0
dbSNP: rs80359298
rs80359298
BRCA2
1 1.000 13 32316476 frameshift variant AA/- delins 0.700 0
dbSNP: rs397507623
rs397507623
BRCA2
2 0.925 0.200 13 32316478 frameshift variant AGAG/-;AG delins 0.700 1.000 3 2004 2016
dbSNP: rs80359343
rs80359343
BRCA2
3 0.925 0.200 13 32316485 frameshift variant C/- delins 0.700 1.000 6 1988 2012
dbSNP: rs80359393
rs80359393
BRCA2
2 0.925 0.200 13 32316491 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs397507687
rs397507687
BRCA2
1 1.000 13 32316493 frameshift variant GAAATTTT/- delins 0.700 0
dbSNP: rs80358622
rs80358622
BRCA2
1 1.000 13 32316497 stop gained G/A;T snv 0.700 0
dbSNP: rs80359400
rs80359400
BRCA2
2 0.925 0.200 13 32316497 frameshift variant -/T ins 0.700 0
dbSNP: rs886040552
rs886040552
BRCA2
1 1.000 13 32316507 frameshift variant -/G delins 0.700 0
dbSNP: rs483353081
rs483353081
BRCA2
1 1.000 13 32316508 frameshift variant GAC/ATCGATCGAT;NNNNNNNNNN delins 0.700 0
dbSNP: rs80359483
rs80359483
BRCA2
4 0.882 0.200 13 32316509 frameshift variant AC/- delins 0.700 0
dbSNP: rs886040574
rs886040574
BRCA2
2 0.925 0.200 13 32316509 frameshift variant CGCTGCAACA/- delins 0.700 0
dbSNP: rs397507772
rs397507772
BRCA2
1 1.000 13 32316510 frameshift variant -/A delins 0.700 0
dbSNP: rs80359582
rs80359582
BRCA2
1 1.000 13 32316521 frameshift variant A/- delins 0.700 0
dbSNP: rs397507881
rs397507881
BRCA2
1 1.000 13 32316527 missense variant G/A;T snv 0.700 0
dbSNP: rs886040931
rs886040931
BRCA2
1 1.000 13 32316527 splice donor variant G/- delins 0.700 0
dbSNP: rs81002796
rs81002796
BRCA2
4 0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 0.700 1.000 4 2006 2019
dbSNP: rs81002885
rs81002885
BRCA2
6 0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 0.700 1.000 3 2003 2012