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: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2005 2009
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: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2009 2009
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: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2010 2010
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: rs1800783
rs1800783
NOS3
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2228226
rs2228226
GLI1 ; ARHGAP9
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 1.000 1 2010 2010
dbSNP: rs2237897
rs2237897
KCNQ1
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs3115573
rs3115573 		2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2010 2010
dbSNP: rs17880135
rs17880135
SCAF4
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
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: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10521145
rs10521145
SGF29
1 16 28585563 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs17883901
rs17883901
GCLC
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1883414
rs1883414
HLA-DPB2
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs2412971
rs2412971
HORMAD2
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.800 1.000 1 2011 2011
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011