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
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.100 1.000 15 2008 2019
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.100 0.900 10 2011 2019
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2003 2018
dbSNP: rs4712653
rs4712653
3 0.882 0.080 6 22125735 intron variant T/C;G snv 0.830 1.000 6 2008 2017
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.050 1.000 5 2003 2018
dbSNP: rs63750306
rs63750306
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.040 1.000 4 2002 2011
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
dbSNP: rs6435862
rs6435862
5 0.827 0.160 2 214807822 intron variant G/A;C;T snv 0.830 1.000 4 2009 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2017 2019
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
dbSNP: rs201216664
rs201216664
5 0.851 0.080 17 51171503 missense variant A/G snv 0.030 1.000 3 1995 1999
dbSNP: rs63749805
rs63749805
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.030 1.000 3 1998 2001
dbSNP: rs1424266770
rs1424266770
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.020 1.000 2 2010 2014
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
dbSNP: rs217727
rs217727
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.020 0.500 2 2019 2019
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs538874513
rs538874513
6 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 0.020 1.000 2 1999 2001
dbSNP: rs63751163
rs63751163
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 2000 2001
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
dbSNP: rs74315406
rs74315406
5 0.851 0.160 20 4699870 missense variant A/G snv 0.020 1.000 2 1997 2000