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: 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: rs1190356035
rs1190356035
GAD1
4 0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1801208
rs1801208
WFS1
4 0.882 0.360 4 6301162 missense variant G/A snv 5.7E-02 5.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2003 2003
dbSNP: rs148038936
rs148038936
ITGB2 ; LOC107987303
2 1.000 0.080 21 44910354 missense variant G/A;C snv 2.4E-05; 1.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2005 2005
dbSNP: rs2305035
rs2305035
CBLB
2 1.000 0.080 3 105720182 synonymous variant G/A snv 0.22 0.21 0.010 1.000 1 2005 2005
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2006 2006
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs774263008
rs774263008
FCRL3
1 1 157697767 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs150240657
rs150240657
AGBL2
3 0.925 0.120 11 47682026 missense variant G/A snv 8.7E-05 3.6E-04 0.010 1.000 1 2007 2007
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: 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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2008 2008
dbSNP: rs752455542
rs752455542
CBLB
2 1.000 0.120 3 105681740 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11594656
rs11594656 		9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs11805303
rs11805303
IL23R ; C1orf141
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
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: rs17085007
rs17085007 		7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1800520
rs1800520
AIRE
5 0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 0.010 1.000 1 2009 2009
dbSNP: rs2108225
rs2108225 		2 1.000 0.040 7 107812658 downstream gene variant G/A;T snv 0.010 1.000 1 2009 2009