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: rs1393032636
rs1393032636
TTN
2 0.925 0.120 2 178783017 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs17587
rs17587
PSMB9
8 0.807 0.280 6 32857313 missense variant G/A;T snv 0.24; 4.1E-06; 4.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs750849816
rs750849816
IL1RN
1 1.000 0.120 2 113131075 missense variant A/G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs61747482
rs61747482
TSHR ; CEP128
1 1.000 0.120 14 80955786 missense variant G/C snv 5.2E-03 5.0E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
2 0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05 0.050 0.600 5 1999 2003
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.040 0.750 4 1999 2003
dbSNP: rs1167204443
rs1167204443
GAD1
3 0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2003 2003
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: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.020 0.500 2 2003 2005
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2005 2005
dbSNP: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 < 0.001 1 2006 2006
dbSNP: rs2274736
rs2274736
PTPN21
2 0.925 0.160 14 88472308 missense variant A/G snv 0.33; 4.0E-06 0.38 0.010 1.000 1 2006 2006
dbSNP: rs61752607
rs61752607
LEF1
1 1.000 0.120 4 108165124 missense variant C/A;T snv 8.2E-03 6.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs769814612
rs769814612
LEF1 ; LEF1-AS1
1 1.000 0.120 4 108167727 missense variant T/C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs121908873
rs121908873
TSHR ; LOC101928462
7 0.790 0.160 14 81139828 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs180223
rs180223
TG
2 0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58 0.010 1.000 1 2008 2008
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2008 2008
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs4778641
rs4778641
IL16 ; STARD5
1 1.000 0.120 15 81312047 3 prime UTR variant T/C snv 0.46 0.010 1.000 1 2008 2008
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2008 2008
dbSNP: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.010 1.000 1 2008 2008
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2008 2008
dbSNP: rs853326
rs853326
TG
3 0.882 0.120 8 132897729 missense variant A/G snv 0.58 0.60 0.010 1.000 1 2008 2008