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: rs13207351
rs13207351
1 1.000 0.143 6 43770057 regulatory region variant A/G,T snp 0.57 0.010 1.000 1 2008 2008
dbSNP: rs1570360
rs1570360
11 0.756 0.464 6 43770093 regulatory region variant A/G snp 0.74 0.010 1.000 1 2008 2008
dbSNP: rs1617640
rs1617640
EPO
10 0.801 0.321 7 100719675 regulatory region variant C/A,G,T snp 0.61 0.010 1.000 1 2008 2008
dbSNP: rs17611
rs17611
C5
5 0.846 0.250 9 121006922 missense variant C/T snp 0.47 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
34 0.630 0.607 6 43770613 5 prime UTR variant C/G snp 0.70 0.010 1.000 1 2016 2016
dbSNP: rs2269067
rs2269067
C5
4 0.846 0.214 9 120974762 intron variant G/C snp 0.20 0.30 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
82 0.525 0.750 5 160485411 mature miRNA variant C/G snp 0.71; 4.1E-06 0.71 0.010 1.000 1 2017 2017
dbSNP: rs3025039
rs3025039
28 0.638 0.536 6 43784799 3 prime UTR variant C/T snp 0.13 0.010 1.000 1 2016 2016
dbSNP: rs4994
rs4994
44 0.605 0.536 8 37966280 missense variant A/G snp 0.11 9.0E-02 0.010 < 0.001 1 1997 1997
dbSNP: rs5498
rs5498
53 0.570 0.679 19 10285007 missense variant A/G snp 0.44 0.36 0.010 1.000 1 2008 2008
dbSNP: rs659366
rs659366
8 0.801 0.179 11 73983709 intergenic variant C/T snp 0.40 0.010 1.000 1 2015 2015
dbSNP: rs745738344
rs745738344
TNF
22 0.679 0.500 6 31576786 stop gained G/A snp 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs7903146
rs7903146
59 0.596 0.536 10 112998590 intron variant C/G,T snp 0.26 0.010 1.000 1 2013 2013