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: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs10491322
rs10491322
PPP2CA
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2004 2004
dbSNP: rs10911363
rs10911363
NCF2 ; SMG7
2 0.925 0.120 1 183580622 intron variant G/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs11168268
rs11168268
VDR
2 0.925 0.120 12 47858029 intron variant G/A snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11747270
rs11747270
IRGM
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
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 2012 2012
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 2018 2018
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1385889785
rs1385889785
FCRL3
2 1.000 0.040 1 157695436 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1477353313
rs1477353313
ACR
2 0.925 0.120 22 50744085 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1562444
rs1562444
MTNR1B
2 0.925 0.120 11 92982683 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs17197936
rs17197936 		3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2006 2006
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs204991
rs204991
GPSM3
3 0.882 0.200 6 32193589 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2002 2002