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: rs118192211
rs118192211
10 0.784 0.071 20 63439644 missense variant G/A,C snp 0.010 1.000 1 2014 2014
dbSNP: rs148789453
rs148789453
6 0.846 0.179 4 1001802 missense variant T/A,G snp 2.2E-05; 4.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799821
rs1799821
9 0.846 0.107 1 53210776 missense variant G/A snp 0.49 0.47 0.010 1.000 1 2008 2008
dbSNP: rs2229291
rs2229291
6 0.923 0.107 1 53210729 missense variant T/G snp 2.3E-02 1.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2433322
rs2433322
3 0.923 0.036 4 94458590 intron variant A/G snp 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs281864719
rs281864719
ALK
10 0.846 0.143 2 29220831 missense variant A/C,G,T snp 0.010 1.000 1 2015 2015
dbSNP: rs281864720
rs281864720
ALK
5 1.000 0.036 2 29213994 missense variant A/C,G,T snp 0.010 1.000 1 2015 2015
dbSNP: rs28934906
rs28934906
13 0.769 0.071 X 154031355 missense variant G/A snp 0.010 1.000 1 2003 2003
dbSNP: rs368311455
rs368311455
2 1 53211185 missense variant C/T snp 3.2E-05 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs587777606
rs587777606
4 0.923 0.107 11 62691300 stop gained G/A snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs74315413
rs74315413
11 0.769 0.107 20 4699780 missense variant A/G snp 0.010 1.000 1 2000 2000
dbSNP: rs751557097
rs751557097
2 1 53213431 missense variant G/C snp 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs760292725
rs760292725
2 17 10681145 missense variant T/C snp 0.010 1.000 1 2014 2014
dbSNP: rs786203999
rs786203999
3 1.000 16 46906858 missense variant C/G snp 0.010 1.000 1 2016 2016