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: rs281864719
rs281864719
ALK
10 0.846 0.143 2 29220831 missense variant A/C,G,T snp 0.800 1.000 18 1990 2016
dbSNP: rs863225281
rs863225281
ALK
9 0.821 0.143 2 29220829 missense variant G/C,T snp 0.800 1.000 17 2008 2016
dbSNP: rs113994087
rs113994087
ALK
6 1.000 0.071 2 29209798 missense variant C/A,T snp 0.740 1.000 9 2008 2016
dbSNP: rs121912431
rs121912431
10 0.756 0.143 21 31663829 missense variant G/A snp 0.050 1.000 5 2002 2011
dbSNP: rs1057519697
rs1057519697
ALK
1 2 29220830 missense variant A/C snp 0.700 4 2008 2016
dbSNP: rs1057519698
rs1057519698
ALK
1 2 29222347 missense variant A/T snp 0.700 3 2008 2012
dbSNP: rs110419
rs110419
2 1.000 0.071 11 8231306 intron variant A/G snp 0.42 0.810 1.000 3 2011 2016
dbSNP: rs281864720
rs281864720
ALK
5 1.000 0.036 2 29213994 missense variant A/C,G,T snp 0.700 3 2008 2012
dbSNP: rs3768716
rs3768716
2 1.000 0.071 2 214771070 intron variant T/C snp 0.15 0.820 1.000 3 2010 2016
dbSNP: rs4712653
rs4712653
1 6 22125735 intron variant T/C,G snp 0.60; 3.2E-05 0.800 3 2008 2017
dbSNP: rs63750306
rs63750306
20 0.692 0.357 14 73173663 missense variant A/C,G,T snp 0.030 1.000 3 1998 2001
dbSNP: rs6435862
rs6435862
3 1.000 0.071 2 214807822 intron variant G/A,C,T snp 0.75 0.830 1.000 3 2010 2016
dbSNP: rs863225285
rs863225285
ALK
2 2 29209789 missense variant T/G snp 0.700 3 2008 2012
dbSNP: rs17065417
rs17065417
2 1.000 0.071 6 104958399 intron variant A/C snp 9.4E-02 0.810 1.000 2 2012 2017
dbSNP: rs17487792
rs17487792
1 2 214778776 intron variant C/T snp 0.15 0.800 2 2010 2017
dbSNP: rs1800795
rs1800795
58 0.580 0.607 7 22727026 intron variant C/G snp 0.68 0.020 1.000 2 2009 2014
dbSNP: rs201216664
rs201216664
3 0.923 0.071 17 51171503 missense variant A/G snp 0.020 1.000 2 1996 1999
dbSNP: rs34725003
rs34725003
APP
8 0.801 0.143 21 25982424 frameshift variant GG/G in-del 0.020 1.000 2 2007 2016
dbSNP: rs35850753
rs35850753
4 0.878 0.071 17 7675353 5 prime UTR variant C/T snp 1.9E-02 0.710 1.000 2 2014 2017
dbSNP: rs63751163
rs63751163
8 0.801 0.179 14 73192844 missense variant T/C snp 0.020 1.000 2 2000 2002
dbSNP: rs6441201
rs6441201
3 0.923 0.071 3 158460535 intron variant G/A snp 0.50 0.810 1.000 2 2017 2018
dbSNP: rs74315406
rs74315406
6 0.846 0.143 20 4699870 missense variant A/G snp 0.020 1.000 2 1997 2001
dbSNP: rs7587476
rs7587476
1 2 214789163 intron variant T/A,C snp 0.75 0.800 2 2010 2012
dbSNP: rs863225283
rs863225283
ALK
3 1.000 0.071 2 29213993 missense variant A/C snp 0.700 2 2012 2012
dbSNP: rs863225284
rs863225284
ALK
2 2 29213992 missense variant G/C,T snp 0.700 2 2012 2012