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: rs17880135
rs17880135
SCAF4
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
dbSNP: rs1025423410
rs1025423410
TLR1
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10521145
rs10521145
SGF29
1 16 28585563 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snv 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1317776692
rs1317776692
INF2
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs13293564
rs13293564
UNC13B
1 9 35166766 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1427118369
rs1427118369
COL4A3 ; MFF-DT
1 2 227283830 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
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: rs204732
rs204732
SCAF4
1 21 31720530 intron variant G/A snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs55807605
rs55807605
CFH
1 1 196736919 missense variant G/A snv 1.4E-03 5.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs57960694
rs57960694
CFHR5
1 1 196994083 missense variant G/A snv 1.1E-02 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs776400293
rs776400293
TLR3
1 4 186076620 start lost A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7947841
rs7947841
CAT
1 11 34470133 intron variant G/A snv 1.0E-01 0.010 1.000 1 2013 2013
dbSNP: rs8731
rs8731
SUPT7L ; GPN1
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424 		1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs9896208
rs9896208
ACE
1 17 63498748 intron variant T/C snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs9932581
rs9932581
CYBA ; MVD
1 16 88651945 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.080 1 230710933 intron variant T/C snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs121912863
rs121912863
COL4A4
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs146956976
rs146956976
GSN
2 1.000 0.080 9 121302985 missense variant C/T snv 3.1E-04 4.0E-04 0.010 1.000 1 2002 2002
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: rs1926723
rs1926723
AGT
2 1.000 0.080 1 230704350 intron variant T/A;C;G snv 1.2E-05; 0.11; 2.0E-05 0.010 1.000 1 2013 2013
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