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: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs56126236
rs56126236
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 0
dbSNP: rs1057519919
rs1057519919
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1333957805
rs1333957805
1 1.000 0.040 2 136115639 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1400239417
rs1400239417
ALK
4 0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs922324159
rs922324159
5 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.810 1.000 5 2000 2016
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 3 2000 2016
dbSNP: rs28931588
rs28931588
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 2 2014 2016
dbSNP: rs1057519886
rs1057519886
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519929
rs1057519929
10 0.776 0.320 3 179199066 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
13 0.752 0.200 3 179218308 missense variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
13 0.724 0.200 3 41224612 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13306747
rs13306747
6 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs28931589
rs28931589
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016