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: rs4872077
rs4872077
1 1.000 0.080 8 23200675 intron variant T/A;C snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs7553007
rs7553007
7 0.827 0.120 1 159728759 intergenic variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs765433422
rs765433422
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2017 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057519698
rs1057519698
ALK
8 0.827 0.120 2 29222347 missense variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519742
rs1057519742
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519803
rs1057519803
4 0.925 0.080 12 56088138 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519909
rs1057519909
7 0.790 0.240 15 66435116 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913247
rs121913247
MET
3 0.882 0.200 7 116783359 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1345316856
rs1345316856
1 1.000 0.080 8 27810979 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1452020002
rs1452020002
1 1.000 0.080 2 211947467 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs397517096
rs397517096
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015