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: rs12115114
rs12115114 		2 1.000 0.080 8 63477322 non coding transcript exon variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs121434256
rs121434256
AIRE
3 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.010 1.000 1 1998 1998
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008
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 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2010 2010
dbSNP: rs1223438908
rs1223438908
CBLB
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1228534100
rs1228534100
HNF1A ; HNF1A-AS1
3 1.000 0.040 12 120978892 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1252641479
rs1252641479
ARHGEF7
2 1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12992492
rs12992492 		2 1.000 0.040 2 203836831 intergenic variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1331108652
rs1331108652
PIK3CB
1 3 138694820 stop gained G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1333739
rs1333739
RAVER2
1 1 64827766 intron variant A/G;T snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs13390936
rs13390936
STAT4
3 0.925 0.080 2 191090090 intron variant A/T snv 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs13447
rs13447
NCF1C
4 0.882 0.200 7 75166663 non coding transcript exon variant T/A;C snv 1.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs140101069
rs140101069
GLIS3
2 1.000 0.120 9 3828342 missense variant G/A snv 3.2E-04 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs140490
rs140490
UBE2L3
2 1.000 0.080 22 21567397 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs141480813
rs141480813
AIRE
4 0.882 0.080 21 44289752 missense variant A/T snv 2.8E-05 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs1425186769
rs1425186769
P2RX2
2 1.000 0.120 12 132620303 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs146054764
rs146054764
CASP9
4 0.882 0.160 1 15506000 missense variant T/G snv 1.4E-03; 8.0E-06 1.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs1467199
rs1467199
STAT1
2 1.000 0.120 2 191015776 intron variant C/G;T snv 0.010 1.000 1 2015 2015