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: rs80359730
rs80359730
BRCA2
3 0.925 0.200 13 32379465 frameshift variant C/- delins 1.4E-05 0.700 1.000 15 1998 2017
dbSNP: rs276174854
rs276174854
BRCA2
3 0.925 0.200 13 32339499 frameshift variant TATG/- delins 0.700 1.000 14 2002 2015
dbSNP: rs397515636
rs397515636
BRCA2
4 0.882 0.200 13 32338329 frameshift variant -/TGCT delins 0.700 1.000 14 2000 2015
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 14 1994 2016
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 14 2003 2017
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 14 2006 2015
dbSNP: rs80359479
rs80359479
BRCA2
3 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2000 2016
dbSNP: rs80359520
rs80359520
BRCA2
3 0.925 0.200 13 32339929 frameshift variant TTAA/- delins 0.700 1.000 14 1996 2016
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 14 1998 2016
dbSNP: rs81002798
rs81002798
BRCA2
3 0.925 0.200 13 32370558 splice donor variant G/A;T snv 0.700 1.000 14 2003 2017
dbSNP: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 13 1998 2015
dbSNP: rs80358150
rs80358150
BRCA1
3 0.925 0.200 17 43057051 splice donor variant C/A;G;T snv 0.700 1.000 13 2001 2014
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 1.000 13 1998 2015
dbSNP: rs80359460
rs80359460
BRCA2
3 0.925 0.200 13 32338982 frameshift variant A/-;AA delins 0.700 1.000 13 1998 2017
dbSNP: rs80359473
rs80359473
BRCA2
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 1.000 13 2004 2016
dbSNP: rs80359705
rs80359705
BRCA2
5 0.851 0.200 13 32363499 frameshift variant C/- del 7.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs80359741
rs80359741
BRCA2
3 0.925 0.200 13 32379821 frameshift variant ATCAT/- delins 0.700 1.000 13 1996 2018
dbSNP: rs80359752
rs80359752
BRCA2
4 0.882 0.200 13 32380136 frameshift variant A/-;AA delins 0.700 1.000 13 1995 2015
dbSNP: rs80359874
rs80359874
BRCA1
3 0.925 0.200 17 43094317 frameshift variant ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG/- delins 0.700 1.000 13 1994 2015
dbSNP: rs80359876
rs80359876
BRCA1
5 0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 0.700 1.000 13 1997 2016
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 12 2001 2016
dbSNP: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 1.000 12 1996 2016
dbSNP: rs80357867
rs80357867
BRCA1
4 0.882 0.200 17 43063346 frameshift variant CTTT/- delins 0.700 1.000 12 1997 2016
dbSNP: rs80357919
rs80357919
BRCA1
3 0.925 0.200 17 43094685 frameshift variant TGAG/- del 0.700 1.000 12 1998 2014
dbSNP: rs80357941
rs80357941
BRCA1
3 0.925 0.200 17 43094855 frameshift variant A/- delins 0.700 1.000 12 1997 2016