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: rs1475539937
rs1475539937
TLR9
5 0.882 0.120 3 52223085 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs147846074
rs147846074
AIRE
3 0.925 0.200 21 44289743 missense variant C/G;T snv 1.2E-05; 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
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: rs1483068801
rs1483068801
P2RX6
2 1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs148314165
rs148314165 		3 0.925 0.160 6 137908902 intergenic variant T/- delins 2.0E-02 0.010 1.000 1 2018 2018
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: rs1517440
rs1517440
LOC105373895
2 1.000 0.080 2 220589153 intron variant T/C;G snv 0.010 < 0.001 1 2012 2012
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: rs17066096
rs17066096 		2 1.000 0.080 6 137131771 intergenic variant A/G snv 0.20 0.010 1.000 1 2014 2014
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: rs17266594
rs17266594
BANK1
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2017 2017
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs17758761
rs17758761
ANKFN1
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2017 2017
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: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs1800693
rs1800693
TNFRSF1A
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1800907
rs1800907 		3 0.925 0.120 7 142800425 upstream gene variant T/C snv 0.56 0.010 1.000 1 2011 2011
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: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1889740
rs1889740
ARNT
1 1 150827279 intron variant C/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015