rs104895467, NOD2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.720 2 2014 2018
Regional enteritis
CUI: C0678202
Disease: Regional enteritis
15 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.700 1.000 1 2011 2011
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
22 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.700 1.000 1 2011 2011
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 1.000 1 2018 2018
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 1 2018 2018