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: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2007 2010
dbSNP: rs11196205
rs11196205
TCF7L2
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1160535157
rs1160535157
LAMP2
1 X 120449056 stop gained G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs12155400
rs12155400
HDAC9
2 7 18389298 intron variant A/G snv 2.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1249719
rs1249719
COL27A1
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs137853298
rs137853298
TIMP3 ; SYN3
3 0.925 0.080 22 32859351 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1800592
rs1800592 		8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 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: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs281874657
rs281874657
COL4A5
3 0.925 0.160 X 108586717 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs281874727
rs281874727
COL4A5
2 1.000 0.160 X 108681837 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs2853502
rs2853502
CYTB ; ND5
2 1.000 0.200 MT 13276 missense variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs3751624
rs3751624
MYO5C
2 1.000 0.120 15 52282973 intron variant C/T snv 0.20 0.010 1.000 1 2012 2012
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: rs62638634
rs62638634
RPGR
4 0.925 0.080 X 38322921 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs735286
rs735286
VEGFA
1 6 43776884 non coding transcript exon variant C/T snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011