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: 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: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1217393
rs1217393
AP4B1-AS1
4 0.851 0.160 1 113891324 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
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: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12534421
rs12534421
TNPO3
1 1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs12540874
rs12540874
GRB10
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs12711490
rs12711490 		4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
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: rs13101828
rs13101828
DGKQ
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
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: rs13238352
rs13238352
TNPO3
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs13239597
rs13239597
TNPO3 ; TPI1P2
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
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: rs13389408
rs13389408
STAT4
4 0.851 0.160 2 191068557 3 prime UTR variant T/C snv 7.4E-02 0.700 1.000 1 2019 2019
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: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2019 2019
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