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: 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: 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: 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: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs4986791
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs6822844
rs6822844 		0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs6937506
rs6937506 		0.807 0.280 6 132578260 intergenic variant G/A snv 0.25
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs7574865
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs943899383
rs943899383
F5
1.000 0.200 1 169586343 frameshift variant C/- delins
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs10204525
rs10204525
PDCD1
0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs1126772
rs1126772
SPP1
0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs1970000
rs1970000
CD274
1.000 0.200 9 5465036 intron variant C/A;G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs2234237
rs2234237
TREM1
0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs3789205
rs3789205
TREM1
1.000 0.200 6 41286177 intron variant A/G snv 9.4E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs7854303
rs7854303
PDCD1LG2
1.000 0.200 9 5557672 missense variant T/C snv 1.00 1.00
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs7999348
rs7999348
UBAC2
1.000 0.200 13 99280668 intron variant G/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs9471535
rs9471535
TREM1
0.851 0.240 6 41287752 upstream gene variant T/C snv 0.12
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 < 0.001 1 2012 2012
dbSNP: rs1343151
rs1343151
IL23R
0.752 0.400 1 67253446 intron variant G/A snv 0.41
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2012 2012