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: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs80358479
rs80358479
BRCA2
1 1.000 0.120 13 32333367 missense variant C/T snv 2.1E-04 1.2E-04 0.700 0
dbSNP: rs80357828
rs80357828
BRCA1
3 0.882 0.200 17 43092155 frameshift variant GA/- delins 0.700 0
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 1.000 2 1999 2009
dbSNP: rs80357750
rs80357750
BRCA1
8 0.790 0.200 17 43115759 frameshift variant G/- delins 0.020 0.500 2 2007 2010
dbSNP: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
dbSNP: rs80357517
rs80357517
BRCA1
5 0.827 0.200 17 43092277 frameshift variant -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs80357474
rs80357474
BRCA1
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0
dbSNP: rs80357462
rs80357462
BRCA1
1 1.000 0.120 17 43057083 missense variant G/A;C snv 0.700 0
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 0
dbSNP: rs80357327
rs80357327
BRCA1
6 0.827 0.200 17 43115730 missense variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80357233
rs80357233
BRCA1
4 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs80357106
rs80357106
BRCA1
6 0.827 0.200 17 43092212 stop gained C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80356993
rs80356993
BRCA1
3 0.925 0.120 17 43063937 missense variant A/G;T snv 0.700 0
dbSNP: rs80356952
rs80356952
BRCA1
9 0.790 0.200 17 43093901 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs80187739
rs80187739
BRCA1
5 0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs7937840
rs7937840
INCENP
7 0.807 0.200 11 62126500 intron variant C/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs786203319
rs786203319
BRCA1
6 0.827 0.160 17 43115759 missense variant G/A snv 0.020 0.500 2 2007 2010
dbSNP: rs7861573
rs7861573
BNC2
1 1.000 0.120 9 16862282 intron variant A/G;T snv 0.700 1.000 1 2009 2009