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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.020 1.000 2 2001 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.900 10 2002 2018
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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.980 101 2005 2019
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: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.030 0.667 3 2006 2012
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: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.040 1.000 4 2007 2017
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2007 2015
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: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 1.000 11 2008 2017
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