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: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs12189871
rs12189871
HLA-B
2 0.925 0.080 6 31284147 intron variant C/T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs12360861
rs12360861
CD6 ; LOC105369326
1 1.000 0.040 11 61009601 missense variant G/A snv 0.13 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1249564
rs1249564 		1 1.000 0.040 1 160466663 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12570088
rs12570088 		4 0.851 0.160 10 58178575 intergenic variant A/G snv 4.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1265112
rs1265112
CCHCR1
1 1.000 0.040 6 31150242 intron variant T/C snv 0.28 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1284037740
rs1284037740
CSTA
1 1.000 0.040 3 122337642 synonymous variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs12883343
rs12883343 		2 0.925 0.080 14 35383268 downstream gene variant C/G;T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs130067
rs130067
CCHCR1
4 0.851 0.200 6 31150734 missense variant T/G snv 0.23 0.21 0.010 1.000 1 2013 2013
dbSNP: rs130071
rs130071
CCHCR1
1 1.000 0.040 6 31148433 synonymous variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs130269
rs130269
TIMP3 ; SYN3
1 1.000 0.040 22 32805668 intron variant C/T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs13196377
rs13196377
TRAF3IP2 ; TRAF3IP2-AS1
1 1.000 0.040 6 111580635 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1343151
rs1343151
IL23R
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1343152
rs1343152
IL23R
1 1.000 0.040 1 67238649 intron variant A/C snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs1347671835
rs1347671835
IL17C
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs1400986
rs1400986
IL20
1 1.000 0.040 1 206865341 upstream gene variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs1406703700
rs1406703700
CD40
1 1.000 0.040 20 46122352 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs141116007
rs141116007 		1 1.000 0.040 9 133631611 intron variant GAGCTGCTCAAGAGAGAGG/- del 0.44 0.010 1.000 1 2019 2019
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1468488
rs1468488
IL17RA
1 1.000 0.040 22 17109854 3 prime UTR variant T/C snv 0.25 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1490867890
rs1490867890
MCL1 ; LOC107985203
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1518108
rs1518108 		2 0.925 0.080 1 206869829 downstream gene variant C/T snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2017 2017