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: rs104895428
rs104895428
NOD2
1.000 0.040 16 50710953 missense variant C/G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895429
rs104895429
NOD2
1.000 0.040 16 50711152 missense variant A/C;G snv 4.0E-06; 7.2E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895431
rs104895431
NOD2
1.000 0.040 16 50711203 missense variant C/T snv 9.7E-04 1.0E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895432
rs104895432
NOD2
1.000 0.040 16 50711232 missense variant G/A snv 3.1E-04 3.3E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895438
rs104895438
NOD2
0.925 0.120 16 50711745 missense variant G/A;T snv 6.4E-04; 5.6E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895438
rs104895438
NOD2
0.925 0.120 16 50711745 missense variant G/A;T snv 6.4E-04; 5.6E-05
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.700 0
dbSNP: rs104895439
rs104895439
NOD2
1.000 0.040 16 50711746 missense variant C/T snv 1.6E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895440
rs104895440
NOD2
1.000 0.040 16 50712048 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895442
rs104895442
NOD2
1.000 0.040 16 50712184 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895443
rs104895443
NOD2
1.000 0.040 16 50712243 missense variant G/A snv 2.4E-04 2.0E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895444
rs104895444
NOD2
1.000 0.040 16 50712288 missense variant G/A;T snv 1.1E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895445
rs104895445
NOD2
1.000 0.040 16 50716651 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895446
rs104895446
NOD2
1.000 0.040 16 50716902 missense variant A/G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895447
rs104895447
NOD2
1.000 0.040 16 50716931 missense variant A/G;T snv 1.3E-03; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895453
rs104895453
NOD2
1.000 0.040 16 50722678 missense variant G/A;T snv 6.8E-05; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895461
rs104895461
NOD2
0.882 0.120 16 50710912 missense variant G/A;C snv
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		0.700 0
dbSNP: rs104895468
rs104895468
NOD2
1.000 0.040 16 50699751 missense variant G/A;T snv 2.8E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895469
rs104895469
NOD2
1.000 0.040 16 50710981 missense variant A/C snv 2.4E-04 1.5E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895470
rs104895470
NOD2
1.000 0.040 16 50710998 missense variant A/T snv 4.8E-05 1.4E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895471
rs104895471
NOD2
1.000 0.040 16 50711559 missense variant C/G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 0
dbSNP: rs104895472
rs104895472
NOD2
1.000 0.080 16 50711398 missense variant A/T snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 0
dbSNP: rs104895473
rs104895473
NOD2
0.925 0.120 16 50711449 missense variant T/C snv
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		0.700 0
dbSNP: rs104895473
rs104895473
NOD2
0.925 0.120 16 50711449 missense variant T/C snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.800 0
dbSNP: rs104895474
rs104895474
NOD2
1.000 0.080 16 50711724 missense variant A/C snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.700 0
dbSNP: rs104895475
rs104895475
NOD2
1.000 0.080 16 50711921 missense variant C/A;G;T snv 2.4E-05
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.700 0