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: 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: 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: 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: 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: 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
dbSNP: rs9275141
rs9275141 		6 0.827 0.240 6 32683340 intergenic variant T/G snv 0.50 0.700 1.000 1 2007 2007
dbSNP: rs9357152
rs9357152 		5 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 0.700 1.000 1 2007 2007
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: 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: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.810 1.000 2 2008 2009
dbSNP: rs10065172
rs10065172
IRGM
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2009 2009
dbSNP: rs10883365
rs10883365
LINC01475
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs771541567
rs771541567
APOB
4 0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2009 2009