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: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.070 0.857 7 2003 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2017 2019
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.040 1.000 4 2011 2018
dbSNP: rs759853
rs759853
AKR1B1
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.040 1.000 4 2009 2019
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2011 2017
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2015
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2014 2017
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.030 1.000 3 2011 2015
dbSNP: rs12219125
rs12219125 		2 0.925 0.120 10 20304158 intergenic variant G/T snv 0.15 0.810 1.000 2 2011 2019
dbSNP: rs13064954
rs13064954 		1 1.000 0.120 3 157136953 downstream gene variant G/A snv 7.9E-02 0.810 1.000 2 2011 2016
dbSNP: rs13207351
rs13207351
VEGFA
4 0.851 0.280 6 43770057 upstream gene variant A/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2004 2006
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2012 2019
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.020 1.000 2 2014 2015
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.020 1.000 2 2014 2015
dbSNP: rs3759890
rs3759890
SORD
2 0.925 0.160 15 45022396 upstream gene variant C/G snv 0.19 0.020 1.000 2 2013 2019
dbSNP: rs39059
rs39059
CHN2
1 1.000 0.120 7 29215854 intron variant A/G snv 0.32 0.020 1.000 2 2011 2015
dbSNP: rs4462262
rs4462262 		2 0.925 0.120 10 57429418 intergenic variant T/C snv 0.55 0.810 1.000 2 2011 2019
dbSNP: rs4838605
rs4838605
ARHGAP22
4 0.882 0.160 10 48491914 intron variant C/T snv 0.38 0.810 1.000 2 2011 2014
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.020 1.000 2 2010 2015
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.020 1.000 2 2011 2014