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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 < 0.001 1 2005 2005
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs704840
rs704840
TNFSF4 ; LOC100506023
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs844648
rs844648
TNFSF4 ; LOC100506023
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.030 0.667 3 2010 2013
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs3135945
rs3135945
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
2 1.000 0.200 3 48467567 synonymous variant G/A snv 9.4E-03 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs485497
rs485497
IL12A-AS1
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17266594
rs17266594
BANK1
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2013 2013
dbSNP: rs4522865
rs4522865
BANK1
4 0.882 0.240 4 101794731 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs3792783
rs3792783
TNIP1
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 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: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.030 0.667 3 2013 2018
dbSNP: rs11575837
rs11575837
NCR3
2 1.000 0.200 6 31592893 5 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.020 1.000 2 2013 2019
dbSNP: rs13447
rs13447
NCF1C
4 0.882 0.200 7 75166663 non coding transcript exon variant T/A;C snv 1.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2007 2007
dbSNP: rs201802880
rs201802880
NCF1
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs2070197
rs2070197
IRF5
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.010 1.000 1 2007 2007