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: rs1965673
rs1965673
WWC1
1.000 0.200 5 168411232 intron variant C/G snv 6.8E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs2073716
rs2073716
CCHCR1
1.000 0.200 6 31155220 intron variant C/G snv 6.8E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs2517411
rs2517411 		1.000 0.200 6 30992490 downstream gene variant T/C;G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs2848479
rs2848479 		1.000 0.200 11 98216871 intergenic variant C/T snv 0.40
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs3093953
rs3093953
MICB
1.000 0.200 6 31506911 intron variant T/G snv 0.80
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs3094584
rs3094584
MICA
1.000 0.200 6 31416071 intron variant G/A;T snv 0.17
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs3095324
rs3095324
CDSN ; PSORS1C1
1.000 0.200 6 31119356 intron variant C/T snv 0.35
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs386579334
rs386579334
CDSN ; PSORS1C1
1.000 0.200 6 31119356 intron variant C/T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs4394274
rs4394274
HLA-B
1.000 0.200 6 31350387 intron variant C/A snv 0.40
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs6910516
rs6910516 		1.000 0.200 6 31376050 non coding transcript exon variant A/C;G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs6933050
rs6933050 		0.925 0.200 6 31375855 non coding transcript exon variant T/C snv 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs7775759
rs7775759 		0.925 0.200 6 31384669 upstream gene variant G/A snv 0.36
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs9266490
rs9266490 		1.000 0.200 6 31372381 intron variant A/G snv 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs9268861
rs9268861
HLA-DRB9
0.925 0.280 6 32462117 intron variant C/A snv 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs936551
rs936551
CPLX1
1.000 0.200 4 827702 upstream gene variant A/G snv 0.52
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs9368678
rs9368678
HLA-B ; LOC112267902
1.000 0.200 6 31304686 intron variant T/C snv 9.2E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs9380217
rs9380217 		1.000 0.200 6 31083776 downstream gene variant C/T snv 6.4E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1057519328
rs1057519328
MEFV
1.000 0.200 16 3249592 missense variant G/C snv 2.1E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs146597836
rs146597836
ADA2
1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs746055479
rs746055479
NOD2
1.000 0.200 16 50712108 missense variant G/A;T snv 2.4E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs750868279
rs750868279
ADA2
1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs751454741
rs751454741
MEFV
1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs752615209
rs752615209
NOD2
1.000 0.200 16 50710956 missense variant C/G;T snv 8.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs755659290
rs755659290
MEFV
1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs774164456
rs774164456
PSTPIP1
1.000 0.200 15 77032888 missense variant G/A;C snv 2.6E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0