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: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs193920774
rs193920774
TP53
22 0.695 0.440 17 7673823 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs3756668
rs3756668
PIK3R1
5 0.925 0.160 5 68300260 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4353229
rs4353229
CASP7
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780070
rs587780070
TP53
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587782177
rs587782177
TP53
11 0.763 0.200 17 7674887 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6790167
rs6790167
TP63
5 0.827 0.080 3 189869485 intron variant A/G snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201059
rs786201059
TP53
20 0.701 0.360 17 7673764 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201838
rs786201838
TP53
24 0.683 0.440 17 7674953 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
TP53
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876658468
rs876658468
TP53
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
TP53
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016