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: rs2276415
rs2276415
CLNS1A ; AQP11
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.020 1.000 2 2016 2019
dbSNP: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs4740
rs4740
EBI3
8 0.827 0.240 19 4236999 missense variant G/A snv 0.34 0.39 0.010 1.000 1 2019 2019
dbSNP: rs55703767
rs55703767
COL4A3 ; MFF-DT
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs868580411
rs868580411
COL4A5
2 1.000 X 108602973 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs136161
rs136161
APOL1
3 0.925 0.160 22 36261386 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3729548
rs3729548
SLC2A1
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs3752462
rs3752462
MYH9
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2018 2018
dbSNP: rs841853
rs841853
SLC2A1
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.020 1.000 2 2014 2017
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs37369
rs37369
AGXT2
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393
UMOD
8 0.827 0.200 16 20353266 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
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: rs653747
rs653747
LINC00923
2 15 97659878 intron variant C/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs11643718
rs11643718
SLC12A3
10 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.020 1.000 2 2003 2016
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2008 2016
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1191455921
rs1191455921
LMX1B
3 0.925 0.240 9 126693319 missense variant G/A snv 0.010 1.000 1 2016 2016
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 2016 2016
dbSNP: rs1524107
rs1524107
IL6 ; IL6-AS1
6 0.827 0.320 7 22728600 non coding transcript exon variant C/T snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2016 2016