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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2010
dbSNP: rs35677470
rs35677470
DNASE1L3
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.710 1.000 4 2014 2019
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.030 1.000 3 2011 2017
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10178332
rs10178332
ROCK2
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10406069
rs10406069
CD22 ; MIR5196
1 1.000 0.040 19 35345627 missense variant G/A;C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs11117420
rs11117420
LINC02132
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11171747
rs11171747
ESYT1 ; ZC3H10
1 1.000 0.040 12 56124624 3 prime UTR variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs11217020
rs11217020
DDX6
1 1.000 0.040 11 118768644 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12540874
rs12540874
GRB10
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs13079920
rs13079920
RBMS3
3 0.882 0.200 3 29404440 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs149660944
rs149660944
CHST8
5 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2008 2008