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: rs200085146
rs200085146
MRE11
1 11 94447287 missense variant C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs748434421
rs748434421
MRE11
1 11 94485928 missense variant T/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs774057024
rs774057024
MRE11
1 11 94456331 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.100 0.923 13 1993 2019
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.050 0.800 5 1993 2019
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs750600586
rs750600586
TP53
3 17 7675199 missense variant G/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs876660829
rs876660829
TP53
2 17 7673598 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.400 5 1996 2014
dbSNP: rs1800709
rs1800709
BRCA1
6 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.020 1.000 2 1996 1998
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.010 1.000 1 1996 1996
dbSNP: rs63751002
rs63751002
MSH2
2 2 47476405 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs1799930
rs1799930
NAT2
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.030 1.000 3 1997 2014
dbSNP: rs1799931
rs1799931
NAT2
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.020 1.000 2 1997 2014
dbSNP: rs149308960
rs149308960
ESR1
4 0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03 0.010 1.000 1 1997 1997
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 1997 1997
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.824 17 1998 2016
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.100 0.824 17 1998 2016
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.020 1.000 2 1998 2011
dbSNP: rs1171303257
rs1171303257
ALB
2 4 73410405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1322051434
rs1322051434
APC
2 5 112838427 missense variant A/T snv 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 0.500 2 1999 2015
dbSNP: rs141425171
rs141425171
AR
3 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 1999 1999
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999