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: rs10953615
rs10953615
1 1.000 0.080 7 109512654 intergenic variant A/G snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1321311
rs1321311
15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs13294589
rs13294589
1 1.000 0.080 9 26694890 intergenic variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs312986
rs312986
3 0.925 0.080 18 1898710 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs31563
rs31563
5 0.851 0.160 5 135899917 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 1.000 2 2014 2016
dbSNP: rs2234767
rs2234767
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11125529
rs11125529
3 0.882 0.280 2 54248729 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.040 1.000 4 2010 2016
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.080 1.000 8 2001 2019
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
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 0.010 1.000 1 1999 1999
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2015 2015
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.030 1.000 3 2004 2013
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2012 2012
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.020 1.000 2 2007 2012
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2018
dbSNP: rs10931936
rs10931936
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs3176352
rs3176352
7 0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1057519883
rs1057519883
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016