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: rs2058660
rs2058660
IL18RAP
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2015
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2010 2016
dbSNP: rs2617170
rs2617170
KLRC4 ; KLRC4-KLRK1
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
dbSNP: rs573775
rs573775
ATG5
4 0.851 0.320 6 106316991 intron variant G/A snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs12932187
rs12932187
CIITA ; LOC105371080
2 0.925 0.320 16 10878023 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs13210247
rs13210247
TRAF3IP2 ; TRAF3IP2-AS1
3 0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2016 2016
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs9577873
rs9577873
GAS6 ; GAS6-AS1
1 1.000 0.200 13 113825282 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2007 2017
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs7028891
rs7028891
DELEC1
2 0.925 0.280 9 114882735 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2013 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 1.000 9 2000 2019
dbSNP: rs2269067
rs2269067
C5
5 0.827 0.360 9 120974762 intron variant G/C snv 0.20 0.30 0.010 1.000 1 2015 2015
dbSNP: rs17006292
rs17006292
TFCP2L1
1 1.000 0.200 2 121261187 intron variant C/A snv 2.8E-02 0.800 1.000 1 2012 2012