Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 0.500 2 2006 2009
dbSNP: rs104895094
rs104895094
MEFV
0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs201565523
rs201565523
SLC11A1
0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2007 2017
dbSNP: rs104895297
rs104895297
MVK
0.882 0.360 12 109581427 missense variant C/T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs121908147
rs121908147
NLRP3
0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs28934897
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs370893734
rs370893734
TNF
1.000 0.200 6 31577481 missense variant G/A;T snv 2.0E-05; 1.6E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs104894559
rs104894559
CA4
0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs104895083
rs104895083
MEFV
0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs1327295035
rs1327295035
IL17A
1.000 0.200 6 52187730 missense variant A/G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs201890924
rs201890924
IL17A
1.000 0.200 6 52187736 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs758548184
rs758548184
NOD2
0.851 0.240 16 50699557 missense variant G/C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2009 2019
dbSNP: rs2061634
rs2061634
SUGT1P4-STRA6LP-CCDC180 ; CCDC180
1.000 0.200 9 97343500 missense variant C/G snv 0.27 0.30
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs2280714
rs2280714
TNPO3
0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 < 0.001 1 2009 2009
dbSNP: rs752637
rs752637
IRF5
0.925 0.280 7 128939366 intron variant T/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 < 0.001 1 2009 2009
dbSNP: rs17375018
rs17375018
IL23R ; C1orf141
0.790 0.360 1 67189464 intron variant G/A snv 0.29
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.050 1.000 5 2010 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.830 0.800 5 2010 2017
dbSNP: rs924080
rs924080 		0.882 0.240 1 67294457 intergenic variant T/C snv 0.45
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.840 0.800 5 2010 2019
dbSNP: rs1518111
rs1518111
IL10 ; IL19
0.790 0.360 1 206771300 intron variant T/C snv 0.71
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.830 1.000 4 2010 2015
dbSNP: rs11209032
rs11209032 		0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.030 1.000 3 2010 2019
dbSNP: rs1495965
rs1495965 		0.790 0.280 1 67287825 intergenic variant C/T snv 0.55
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.820 1.000 3 2010 2017
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2010 2016