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: rs12141431
rs12141431 		1.000 0.200 1 67281340 downstream gene variant G/C snv 0.23
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 0.500 2 2017 2019
dbSNP: rs17235409
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2006 2009
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2015 2017
dbSNP: rs1800450
rs1800450
MBL2
0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2005 2017
dbSNP: rs1805110
rs1805110
TGFBR3
0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2012 2015
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: rs2253907
rs2253907 		0.882 0.360 6 31369093 intron variant C/T snv 0.43
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 2 2012 2013
dbSNP: rs2293152
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2012 2014
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: rs27044
rs27044
ERAP1 ; LOC102724748
0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2019 2020
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2015 2015
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2000 2004
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2013 2015
dbSNP: rs3024490
rs3024490
IL10 ; IL19
0.742 0.520 1 206771966 intron variant A/C;G;T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.710 0.500 2 2013 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2013 2019
dbSNP: rs4810485
rs4810485
CD40
0.732 0.480 20 46119308 intron variant T/A;G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2012 2015
dbSNP: rs4947296
rs4947296 		0.851 0.440 6 31090401 intergenic variant T/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.800 1.000 2 2012 2013
dbSNP: rs4959053
rs4959053
PSORS1C1
0.925 0.280 6 31131800 intron variant G/A snv 6.3E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.800 1.000 2 2012 2013
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
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: rs7616215
rs7616215
CCR3 ; LOC105377067
0.925 0.280 3 46164194 intron variant C/T snv 0.62
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.810 1.000 2 2013 2015
dbSNP: rs8177374
rs8177374
TIRAP
0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2011 2013
dbSNP: rs9266406
rs9266406 		1.000 0.200 6 31368641 intron variant G/A snv 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.800 1.000 2 2012 2013
dbSNP: rs9266409
rs9266409 		0.925 0.200 6 31368791 intron variant T/C snv 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 2 2012 2013
dbSNP: rs10094579
rs10094579 		0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2018 2018