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: rs1126772
rs1126772
SPP1
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2012 2012
dbSNP: rs11574944
rs11574944
ITGAL
1 1.000 0.200 16 30498669 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2013 2013
dbSNP: rs11642873
rs11642873 		4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs116799036
rs116799036 		1 1.000 0.200 6 31381371 downstream gene variant G/A snv 0.030 1.000 3 2013 2015
dbSNP: rs11755527
rs11755527
BACH2
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs11769828
rs11769828 		1 1.000 0.200 7 150534221 intergenic variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11792633
rs11792633
IL33 ; LOC107987046
5 0.882 0.280 9 6248035 intron variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 0.667 3 2000 2013
dbSNP: rs12119179
rs12119179 		2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs12141431
rs12141431 		1 1.000 0.200 1 67281340 downstream gene variant G/C snv 0.23 0.020 0.500 2 2017 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: rs121908147
rs121908147
NLRP3
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12212193
rs12212193
BACH2
2 0.925 0.280 6 90287050 intron variant A/G snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs12569232
rs12569232
LOC107985258
4 0.882 0.280 1 211379722 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2014 2014
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: 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: rs13154629
rs13154629
ERAP1
1 1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2015 2015
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: rs1327295035
rs1327295035
IL17A
1 1.000 0.200 6 52187730 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1342326
rs1342326 		9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2019 2019