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: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 1.000 3 2007 2013
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 1.000 3 2007 2013
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 1.000 3 2007 2013
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs4324798
rs4324798 		8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs10118776
rs10118776
IL33 ; LOC107987046
1 1.000 0.080 9 6227418 intron variant G/A snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1045494
rs1045494
CASP8
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519985
rs1057519985
TP53
16 0.724 0.360 17 7673763 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519989
rs1057519989
TP53
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
TP53
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs114033761
rs114033761 		1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116427960
rs116427960
HLA-B
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs117729306
rs117729306
STK33
1 1.000 0.080 11 8465623 non coding transcript exon variant T/C snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016