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: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs778705666
rs778705666
DPH1
1 1.000 0.120 17 2030174 missense variant C/T snv 0.700 0
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: 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: rs80356993
rs80356993
BRCA1
3 0.925 0.120 17 43063937 missense variant A/G;T snv 0.700 0
dbSNP: rs80357233
rs80357233
BRCA1
4 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 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: rs80357462
rs80357462
BRCA1
1 1.000 0.120 17 43057083 missense variant G/A;C snv 0.700 0
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: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
dbSNP: rs80357828
rs80357828
BRCA1
3 0.882 0.200 17 43092155 frameshift variant GA/- delins 0.700 0
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: 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: rs80359078
rs80359078
BRCA2
3 0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs80359176
rs80359176
BRCA2
1 1.000 0.120 13 32380076 missense variant C/T snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs80359477
rs80359477
BRCA2
5 0.851 0.200 13 32339386 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs869312774
rs869312774
PALB2
3 0.925 0.160 16 23614019 frameshift variant T/- delins 0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2006 2006
dbSNP: rs10756819
rs10756819
BNC2
1 1.000 0.120 9 16858086 intron variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10810666
rs10810666 		1 1.000 0.120 9 16911668 intergenic variant C/T snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs10962656
rs10962656 		1 1.000 0.120 9 16877790 intergenic variant G/A snv 0.10 0.700 1.000 1 2009 2009
dbSNP: rs11782652
rs11782652
CHMP4C
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12379183
rs12379183
BNC2
1 1.000 0.120 9 16865701 intron variant A/G snv 0.26 0.700 1.000 1 2009 2009
dbSNP: rs12379687
rs12379687
BNC2
1 1.000 0.120 9 16854369 intron variant G/A;T snv 0.700 1.000 1 2009 2009