rs2066847, NOD2

N. diseases: 18
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 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.890 0.923 13 2005 2019
Regional enteritis
CUI: C0678202
Disease: Regional enteritis
15 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 17 2001 2015
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
22 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 17 2001 2015
Asthma
CUI: C0004096
Disease: Asthma
1536 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 1 2011 2011
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
3 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 0
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.020 0.500 2 2010 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1 2015 2015
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
CUI: C1302547
Disease: Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
14 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2015 2015
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1 2017 2017
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2015 2015
Enterocolitis
CUI: C0014356
Disease: Enterocolitis
2 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2010 2010
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2010 2010
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2014 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2015 2015
pathologic fistula
CUI: C0016169
Disease: pathologic fistula
8 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2014 2014
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1 2015 2015