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 0.100 1.000 13 2008 2016
dbSNP: rs863225281
rs863225281
ALK
9 0.821 0.143 2 29220829 missense variant G/C,T snp 0.100 1.000 13 2008 2016
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.100 1.000 12 1997 2013
dbSNP: rs121912431
rs121912431
10 0.756 0.143 21 31663829 missense variant G/A snp 0.050 1.000 5 2002 2011
dbSNP: rs113994087
rs113994087
ALK
6 1.000 0.071 2 29209798 missense variant C/A,T snp 0.040 1.000 4 2012 2016
dbSNP: rs121917887
rs121917887
4 0.923 0.071 17 51161744 missense variant A/G snp 6.0E-05 0.030 1.000 3 1999 2005
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.030 1.000 3 2010 2014
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: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.020 1.000 2 2013 2015
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: rs202074408
rs202074408
APP
8 0.801 0.143 21 26000152 missense variant G/A snp 1.6E-05 0.020 1.000 2 2007 2016
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: rs369990738
rs369990738
APP
8 0.801 0.143 21 25975074 missense variant G/A snp 1.2E-05 0.020 1.000 2 2007 2016
dbSNP: rs63751163
rs63751163
8 0.801 0.179 14 73192844 missense variant T/C snp 0.020 1.000 2 2000 2002
dbSNP: rs6435862
rs6435862
3 1.000 0.071 2 214807822 intron variant G/A,C,T snp 0.75 0.020 1.000 2 2010 2013
dbSNP: rs74315406
rs74315406
6 0.846 0.143 20 4699870 missense variant A/G snp 0.020 1.000 2 1997 2001
dbSNP: rs1033069
rs1033069
2 1.000 0.071 2 213900484 intron variant A/G snp 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1045485
rs1045485
26 0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs104893855
rs104893855
3 0.923 0.143 4 41747479 missense variant C/A snp 0.010 1.000 1 2014 2014
dbSNP: rs104893878
rs104893878
17 0.744 0.179 4 89835580 missense variant C/G snp 0.010 1.000 1 2009 2009
dbSNP: rs104893936
rs104893936
3 0.923 0.107 5 176626472 missense variant C/G,T snp 5.6E-05 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs104893937
rs104893937
3 0.923 0.107 5 176621218 missense variant G/T snp 1.7E-04 3.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs104894103
rs104894103
3 0.923 0.179 9 32974495 stop gained C/G,T snp 4.0E-06; 1.6E-04 3.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs1059111
rs1059111
2 1.000 0.071 8 24952575 3 prime UTR variant T/A,G snp 0.78; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs110419
rs110419
2 1.000 0.071 11 8231306 intron variant A/G snp 0.42 0.010 1.000 1 2016 2016