Source: BEFREE ×
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
100 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 68 2005 2019
dbSNP: rs1036199
rs1036199
HAVCR2
3 0.925 0.160 5 157104725 missense variant C/A snv 0.87 0.83 0.020 1.000 2 2011 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2012 2017
dbSNP: rs1883832
rs1883832
CD40
48 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.730 0.750 3 2012 2017
dbSNP: rs2229113
rs2229113
IL10RA
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 < 0.001 1 2017 2017
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 2018 2018
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 1.000 1 2017 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 0.100 0.714 14 2010 2019
dbSNP: rs3811047
rs3811047
IL37
9 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.030 1.000 3 2013 2018
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.500 4 2012 2018
dbSNP: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2011 2011
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.020 0.500 2 2010 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs31517
rs31517
LECT2 ; FBXL21P
1 1.000 0.120 5 135951340 missense variant T/C snv 0.64 0.62 0.010 < 0.001 1 2005 2005
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1748033
rs1748033
PADI4
2 0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06 0.030 1.000 3 2014 2018
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs1126407
rs1126407
LGALS8 ; LOC107985367
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
dbSNP: rs2024301
rs2024301
CLEC4A
1 1.000 0.120 12 8125585 missense variant A/T snv 0.59 0.57 0.010 1.000 1 2008 2008
dbSNP: rs3130983
rs3130983
CDSN ; PSORS1C1
1 0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58 0.010 1.000 1 2013 2013
dbSNP: rs11203367
rs11203367
PADI4
1 1.000 0.120 1 17331121 missense variant T/C snv 0.56 0.56 0.020 1.000 2 2007 2017
dbSNP: rs2240340
rs2240340
PADI4
1 1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54 0.770 1.000 7 2008 2017