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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2010
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs2904880
rs2904880
CD19 ; RABEP2
5 1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.030 1.000 3 2011 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs2246614
rs2246614
CDHR5
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2012 2012
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2002 2002
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2009 2009
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2012 2012
dbSNP: rs3894194
rs3894194
GSDMA
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.710 1.000 2 2017 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs443198
rs443198
NOTCH4
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs6793295
rs6793295
LRRC34
6 0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2011 2011
dbSNP: rs707939
rs707939
MSH5 ; MSH5-SAPCD1
5 0.851 0.200 6 31758911 intron variant C/A snv 0.34 0.26 0.700 1.000 1 2010 2010
dbSNP: rs2239689
rs2239689
TNXB
2 0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2834167
rs2834167
IL10RB
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3130573
rs3130573
PSORS1C1 ; PSORS1C2
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs2075800
rs2075800
HSPA1L
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.700 1.000 1 2010 2010