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: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11643718
rs11643718
SLC12A3
10 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs121908529
rs121908529
AGXT
4 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs12197043
rs12197043 		3 0.882 0.160 6 149130141 regulatory region variant A/G snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12431381
rs12431381
RTN1
2 0.925 0.080 14 59643053 intron variant T/C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs12434215
rs12434215
RTN1
3 0.882 0.160 14 59642862 intron variant A/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs12513649
rs12513649 		6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12917114
rs12917114 		2 0.925 0.080 15 47852953 intron variant C/T snv 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs13447075
rs13447075
PVT1
4 0.882 0.120 8 127998344 non coding transcript exon variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.010 1.000 1 2012 2012
dbSNP: rs1452199941
rs1452199941
TBC1D9
5 0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs146400394
rs146400394
NPHS1
2 0.925 0.080 19 35842486 missense variant C/T snv 6.8E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs148812376
rs148812376
PKD1
3 0.882 0.120 16 2099955 missense variant G/A snv 1.7E-04 3.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs1516792
rs1516792
IL1A
2 0.925 0.080 2 112778356 intron variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018