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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
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: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs587780191
rs587780191
CHEK2
3 0.882 0.120 22 28699931 missense variant T/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs608995
rs608995
PGR
3 0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27 0.010 1.000 1 2005 2005
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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2007 2007
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2007 2007
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2007 2007
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: rs4988344
rs4988344
BRIP1
4 0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15 0.010 1.000 1 2007 2007
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.030 1.000 3 2007 2008
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.020 1.000 2 2007 2008
dbSNP: rs2229109
rs2229109
ABCB1
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
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: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 1.000 2 1999 2009
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