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: 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: 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
SOD1 ; LOC102724449
1 21 31659974 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2008 2008
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: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2009 2009
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: 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: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
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: 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: 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: rs204732
rs204732
SCAF4
1 21 31720530 intron variant G/A snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2053044
rs2053044
ADRB2
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
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: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2018 2018
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: rs2607420
rs2607420
ITPKC
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
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: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
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
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: rs3729548
rs3729548
SLC2A1
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
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: rs387906536
rs387906536
LYZ
6 0.851 0.200 12 69350215 missense variant T/A;C snv 0.010 1.000 1 2002 2002
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010