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: rs121913297
rs121913297
RB1
2 1.000 0.080 13 48465028 stop gained G/A;T snv 0.700 0
dbSNP: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs1429133479
rs1429133479
MYO18B
1 1.000 0.080 22 25847461 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
dbSNP: rs750078923
rs750078923
MYO18B
1 1.000 0.080 22 25769052 missense variant G/A;C snv 1.6E-05 0.700 0
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: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 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: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 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: rs114033761
rs114033761 		1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
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: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
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