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: rs773941026
rs773941026
1 1.000 13 102401633 missense variant A/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs121908160
rs121908160
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs39399
rs39399
2 0.925 0.040 7 103849545 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1048103951
rs1048103951
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2014 2014
dbSNP: rs769142993
rs769142993
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs397514624
rs397514624
3 0.925 13 110187254 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs200786329
rs200786329
3 0.925 13 110201467 missense variant G/A snv 5.2E-05 1.7E-04 0.010 1.000 1 2012 2012
dbSNP: rs4884357
rs4884357
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs80356740
rs80356740
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs879254382
rs879254382
3 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs781902168
rs781902168
3 0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1420960657
rs1420960657
4 0.851 0.080 11 112093192 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1998 2002
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 0.040 1.000 4 1998 2002
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2013 2013
dbSNP: rs7080536
rs7080536
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2006 2006
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.020 1.000 2 2013 2016