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: rs1085308051
rs1085308051
PTEN
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.667 3 1998 2015
dbSNP: rs12722039
rs12722039
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
2 0.925 0.120 6 32637507 missense variant G/A snv 5.7E-02 8.4E-02 0.010 1.000 1 1998 1998
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2002 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2002 2018
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.010 1.000 1 2002 2002
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2008
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2006 2006
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1545620
rs1545620
MYO9B
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.010 1.000 1 2006 2006
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.840 1.000 5 2007 2015
dbSNP: rs1457092
rs1457092
MYO9B
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.040 0.750 4 2007 2016
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.800 1.000 3 2007 2014
dbSNP: rs6840978
rs6840978
IL21-AS1
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.710 1.000 3 2007 2015
dbSNP: rs13119723
rs13119723
KIAA1109
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2007 2008
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.800 1.000 2 2007 2010
dbSNP: rs2305764
rs2305764
MYO9B
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs6762743
rs6762743 		1 1.000 0.080 3 179294212 intergenic variant C/T snv 0.29 0.700 1.000 1 2007 2007