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: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2005 2005
dbSNP: rs1064795860
rs1064795860
TP53
1 1.000 0.080 17 7675155 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2005 2005
dbSNP: rs1186364060
rs1186364060
HFM1
1 1.000 0.080 1 91353084 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121917739
rs121917739
RAD51
4 0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1302297709
rs1302297709
RAD51C
3 0.882 0.080 17 58703319 missense variant A/G snv 0.010 < 0.001 1 2004 2004
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs143282828
rs143282828
UIMC1
1 1.000 0.080 5 176968697 missense variant A/G snv 7.3E-04 7.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs147120792
rs147120792
ARL11
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs152451
rs152451
PALB2
1 1.000 0.080 16 23634870 missense variant T/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801201
rs1801201
ERBB2
1 1.000 0.080 17 39723332 missense variant A/C;G snv 4.0E-06; 4.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs203462
rs203462
AKAP10
7 0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 0.010 1.000 1 2007 2007
dbSNP: rs2070094
rs2070094
BARD1
3 0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 0.010 1.000 1 2006 2006
dbSNP: rs2241268
rs2241268
AKAP13
1 1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 0.010 1.000 1 2006 2006
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs3736265
rs3736265
PPARGC1A
7 0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006
dbSNP: rs397509062
rs397509062
BRCA1
1 1.000 0.080 17 43104223 missense variant A/G snv 0.010 1.000 1 2004 2004