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: rs199816436
rs199816436
TRPS1
1 1.000 0.080 8 115565487 intron variant TTTTTTT/-;T;TT;TTTTTT;TTTTTTTT delins 2.4E-03 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: rs754626
rs754626
SRC
2 0.925 0.080 20 37388937 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs730882026
rs730882026
TP53
15 0.742 0.440 17 7674256 missense variant T/C;G snv 0.700 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: rs916977
rs916977
HERC2
5 1.000 0.080 15 28268218 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs57994353
rs57994353
SEC16A
2 1.000 0.080 9 136462535 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs74899442
rs74899442 		1 1.000 0.080 11 116019561 intergenic variant T/C snv 3.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs10810657
rs10810657 		7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 1.000 4 2012 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: 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: rs587781525
rs587781525
TP53
22 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs786202082
rs786202082
TP53
2 1.000 0.080 17 7673793 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
7 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1059572
rs1059572
HLA-DRB1
1 1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs117132860
rs117132860
AHR
1 1.000 0.080 7 17095084 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 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: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016