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: rs201802880
rs201802880
NCF1
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.040 1.000 4 2017 2020
dbSNP: rs13239597
rs13239597
TNPO3 ; TPI1P2
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.710 1.000 2 2013 2020
dbSNP: rs1051169
rs1051169
S100B
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs3844283
rs3844283
IRAK2
3 0.882 0.200 3 10222796 missense variant C/G snv 0.37 0.35 0.010 1.000 1 2020 2020
dbSNP: rs708035
rs708035
IRAK2
2 0.925 0.120 3 10234479 missense variant T/A snv 0.73 0.70 0.010 1.000 1 2020 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.972 36 2004 2019
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.900 1.000 23 2009 2019
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.100 1.000 16 2002 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.900 0.867 15 2008 2019
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.890 1.000 13 2008 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.870 1.000 13 2009 2019
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.880 1.000 12 2009 2019
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.880 1.000 9 2008 2019
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.770 1.000 9 2009 2019
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.080 0.875 8 2010 2019
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.770 1.000 8 2011 2019
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.060 1.000 6 2011 2019
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.060 0.833 6 2015 2019
dbSNP: rs9271366
rs9271366 		9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.840 1.000 6 2009 2019
dbSNP: rs11568821
rs11568821
PDCD1 ; LOC105373977
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.040 1.000 4 2007 2019
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.040 1.000 4 2015 2019
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.720 1.000 4 2012 2019
dbSNP: rs2431098
rs2431098 		5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs3024493
rs3024493
IL10 ; IL19
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.720 1.000 4 2013 2019