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: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.850 1.000 8 2009 2016
dbSNP: rs10937405
rs10937405
6 0.821 0.071 3 189665394 intron variant C/T snp 0.40 0.830 1.000 4 2010 2014
dbSNP: rs121913351
rs121913351
11 0.744 0.214 7 140781611 missense variant C/A,G,T snp 4.0E-06 0.800 4 2002 2016
dbSNP: rs121913366
rs121913366
8 0.769 0.250 7 140753345 missense variant A/C,T snp 0.800 4 2002 2007
dbSNP: rs17391694
rs17391694
5 0.878 0.107 1 78157942 intergenic variant C/T snp 8.8E-02 0.800 2 2009 2017
dbSNP: rs2495239
rs2495239
1 1.000 0.071 6 41522750 intron variant A/G snp 0.84 0.800 2 2012 2016
dbSNP: rs2853677
rs2853677
9 0.784 0.179 5 1287079 intron variant G/A snp 0.64 0.800 2 2012 2016
dbSNP: rs3817963
rs3817963
6 0.801 0.321 6 32400310 intron variant T/C snp 0.23 0.800 2 2012 2016
dbSNP: rs7216064
rs7216064
1 1.000 0.071 17 67902693 intron variant G/A snp 0.23 0.800 2 2012 2016
dbSNP: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.800 1 2009 2009
dbSNP: rs121913469
rs121913469
11 0.756 0.214 17 39723966 missense variant TT/CC multinucleotide-polymorphism 0.800 1 2004 2004
dbSNP: rs3117582
rs3117582
14 0.715 0.321 6 31652743 intron variant T/G snp 7.9E-02 0.800 1 2009 2009
dbSNP: rs31489
rs31489
10 0.769 0.214 5 1342599 intron variant C/A snp 0.42 0.800 1 2009 2009
dbSNP: rs4324798
rs4324798
5 0.878 0.143 6 28808340 regulatory region variant G/A snp 7.7E-02 0.800 1 2009 2009
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.760 1.000 7 2010 2016
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.750 1.000 6 2008 2016
dbSNP: rs121913530
rs121913530
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.720 1.000 4 2014 2015
dbSNP: rs55781567
rs55781567
4 0.878 0.071 15 78565644 5 prime UTR variant C/G snp 0.30 0.710 1.000 2 2013 2017
dbSNP: rs8042374
rs8042374
10 0.784 0.107 15 78615690 intron variant A/G snp 0.29 0.710 1.000 2 2009 2015
dbSNP: rs13314271
rs13314271
2 0.923 0.071 3 189639813 intron variant T/C snp 0.46 0.710 1.000 1 2014 2014
dbSNP: rs1057519784
rs1057519784
ALK
2 0.923 0.071 2 29220765 missense variant G/T snp 0.700 3 2012 2014
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 3 2012 2016
dbSNP: rs121913355
rs121913355
17 0.699 0.393 7 140781602 stop lost C/A,G,T snp 4.0E-06 0.700 3 2012 2016
dbSNP: rs1057519781
rs1057519781
ALK
2 0.923 0.071 2 29209816 missense variant C/G snp 0.700 2 2012 2014
dbSNP: rs1057519782
rs1057519782
ALK
2 0.923 0.071 2 29220734 missense variant G/T snp 0.700 2 2012 2014