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: rs4917014
rs4917014 		8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs3766379
rs3766379
CD244
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs6682654
rs6682654
CD244
3 0.882 0.320 1 160839213 intron variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs35366573
rs35366573
CD46
3 0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2011 2011
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2011 2011
dbSNP: rs104886308
rs104886308
COL4A5
4 0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs1556445736
rs1556445736
COL4A5
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2017 2017
dbSNP: rs10127939
rs10127939
FCGR3A
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs3124954
rs3124954
FCN2
1 1.000 0.080 9 134881650 intron variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs3819025
rs3819025
IL17A
11 0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2397084
rs2397084
IL17F
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2015 2017
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.020 1.000 2 2014 2018
dbSNP: rs17857295
rs17857295
MAVS
1 1.000 0.080 20 3857794 stop gained C/A;G;T snv 1.6E-05; 0.29; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2326369
rs2326369
MAVS
2 0.925 0.160 20 3862337 synonymous variant C/T snv 9.2E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010