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: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2501577
rs2501577
2 0.925 0.080 10 110086929 intron variant A/G snv 0.37 0.020 1.000 2 2018 2018
dbSNP: rs10509906
rs10509906
2 0.925 0.080 10 109997916 intron variant G/A;C snv 0.020 0.500 2 2014 2018
dbSNP: rs17095355
rs17095355
2 0.925 0.080 10 109975992 intron variant C/T snv 0.22 0.840 1.000 5 2010 2018
dbSNP: rs3755256
rs3755256
1 1.000 0.080 2 10426288 3 prime UTR variant G/A snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2005 2005
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2008 2008