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: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2016 2016
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs156429
rs156429
4 0.882 0.080 7 23266401 non coding transcript exon variant T/C snv 0.54 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 2009 2009
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2014 2014
dbSNP: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1843809
rs1843809
6 0.851 0.080 12 71954918 intron variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs1867283
rs1867283
5 0.925 0.080 9 84835851 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1881457
rs1881457
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs1922242
rs1922242
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs1960264
rs1960264
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2235632
rs2235632
3 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 0.010 1.000 1 2013 2013