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: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2009 2009
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: 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 2009 2009
dbSNP: rs12722495
rs12722495
IL2RA
5 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs13072846
rs13072846
RBMS3
3 0.882 0.200 3 29402923 intron variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs13079920
rs13079920
RBMS3
3 0.882 0.200 3 29404440 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1328142
rs1328142
TRPM3
1 1.000 0.040 9 70783498 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1372072
rs1372072
PLCL2
4 0.851 0.200 3 16913767 intron variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs14024
rs14024
KRT1
2 0.925 0.080 12 52675230 missense variant T/C snv 0.31 0.24 0.010 1.000 1 2017 2017
dbSNP: rs149660944
rs149660944
CHST8
5 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs17266594
rs17266594
BANK1
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2010 2010
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
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: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2012 2012
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