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: rs12449782
rs12449782
3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs12917707
rs12917707
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1317776692
rs1317776692
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs13293564
rs13293564
1 9 35166766 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs13333226
rs13333226
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs136161
rs136161
3 0.925 0.160 22 36261386 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1427118369
rs1427118369
1 2 227283830 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs146956976
rs146956976
GSN
2 1.000 0.080 9 121302985 missense variant C/T snv 3.1E-04 4.0E-04 0.010 1.000 1 2002 2002
dbSNP: rs1524107
rs1524107
6 0.827 0.320 7 22728600 non coding transcript exon variant C/T snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs17881180
rs17881180
1 21 31659974 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs17883901
rs17883901
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2009 2009
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 < 0.001 1 2002 2002
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2005 2005
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1800783
rs1800783
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012