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: rs1800897
rs1800897
PAX2
2 0.925 0.240 10 100809115 synonymous variant C/T snv 7.4E-02 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1556445736
rs1556445736
COL4A5
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
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: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs2230911
rs2230911
P2RX7 ; LOC105370032
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2013 2013
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs10847697
rs10847697
SLC15A4
3 0.882 0.200 12 128814840 synonymous variant G/A snv 0.13 9.1E-02 0.010 1.000 1 2010 2010
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: 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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
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: rs4958881
rs4958881
TNIP1
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs7708392
rs7708392
TNIP1
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: 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: rs11864909
rs11864909
PDILT
7 0.851 0.160 16 20389517 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
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: rs5744168
rs5744168
TLR5
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2009 2009