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: 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: rs367899983
rs367899983
BNC2
2 1.000 0.120 9 16864524 intron variant GTCT/- delins 4.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs1064795649
rs1064795649
BRIP1
2 1.000 0.120 17 61799205 frameshift variant CT/- delins 0.700 0
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: 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: 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: 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: 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
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2228026
rs2228026
TEP1
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs266851
rs266851
KLK15 ; LOC105372441
3 0.882 0.120 19 50833083 intron variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs34529039
rs34529039
CEBPA ; CEBPA-DT
3 0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16 0.010 1.000 1 2016 2016
dbSNP: rs35068177
rs35068177
ABCB1
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014