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: 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: rs137852691
rs137852691
OPCML
2 0.925 0.120 11 132657203 missense variant G/A;C snv 8.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs2153271
rs2153271
BNC2
3 0.925 0.160 9 16864523 intron variant C/T snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs34289250
rs34289250
BRIP1
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs273900729
rs273900729
BRCA1
2 0.925 0.160 17 43082529 missense variant A/G snv 0.700 0
dbSNP: rs28897701
rs28897701
BRCA2
2 0.925 0.160 13 32319232 missense variant G/C snv 2.6E-04 3.1E-04 0.700 0
dbSNP: rs41293521
rs41293521
BRCA2
2 0.925 0.160 13 32394724 missense variant T/C snv 2.9E-04 2.5E-04 0.700 0
dbSNP: rs4987046
rs4987046
BRCA2
4 0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03 0.700 0
dbSNP: rs80356993
rs80356993
BRCA1
3 0.925 0.120 17 43063937 missense variant A/G;T snv 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: rs28933370
rs28933370
ERBB2 ; MIR4728
3 0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06 0.700 1.000 5 2004 2013
dbSNP: rs4320932
rs4320932
IGF2 ; INS-IGF2
3 0.882 0.120 11 2150371 intron variant T/C snv 0.19 0.020 1.000 2 2011 2013
dbSNP: rs495139
rs495139
ENOSF1
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018
dbSNP: rs9303542
rs9303542
SKAP1
3 0.882 0.120 17 48334138 intron variant A/G snv 0.34 0.700 1.000 2 2010 2013
dbSNP: rs10098821
rs10098821
LINC00824
3 0.882 0.120 8 128546982 intron variant C/T snv 7.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs11084033
rs11084033
LOC105372441
4 0.882 0.120 19 50850699 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs13063604
rs13063604
RUVBL1
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs147961867
rs147961867
MAPK3
3 0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1805129
rs1805129
CHEK2
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004