Source: ALL
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: 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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2007 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2007 2012
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs1888747
rs1888747
FRMD3
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs8731
rs8731
SUPT7L ; GPN1
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2001 2014
dbSNP: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2005 2009
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs1317776692
rs1317776692
INF2
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.750 4 1998 2000
dbSNP: rs6495446
rs6495446
MTHFS ; ST20-MTHFS
6 0.851 0.200 15 79862640 intron variant C/T snv 0.31 0.020 1.000 2 2008 2012
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs11739136
rs11739136
KCNMB1 ; KCNIP1
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2016 2016
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 1.000 1 2009 2009
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: 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
IL6 ; IL6-AS1
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: rs17881180
rs17881180
SOD1 ; LOC102724449
1 21 31659974 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2008 2008