rs2066845, NOD2

N. diseases: 46
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 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 1.000 0.949 78 2001 2019
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 0.846 13 2002 2018
Yao syndrome
CUI: C4310620
Disease: Yao syndrome
3 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 1.000 2 2011 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.730 0.750 4 2002 2016
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
22 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 9 2003 2011
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 2 2006 2016
Regional enteritis
CUI: C0678202
Disease: Regional enteritis
15 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.700 1.000 8 2003 2011
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
276 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.700 1.000 1 2016 2016
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.100 1.000 11 2002 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.060 0.833 6 2005 2014
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.040 0.750 4 2005 2008
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
787 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.040 0.750 4 2005 2018
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
89 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 1.000 3 2004 2010
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 1.000 3 2003 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 0.667 3 2005 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 0.667 3 2005 2014
Bronchiolitis Obliterans
CUI: C0006272
Disease: Bronchiolitis Obliterans
5 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2008 2019
Primary bacterial peritonitis
CUI: C0275551
Disease: Primary bacterial peritonitis
11 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2012 2016
Sepsis
CUI: C0243026
Disease: Sepsis
144 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
Septicemia
CUI: C0036690
Disease: Septicemia
141 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
Spondylarthritis
CUI: C0949690
Disease: Spondylarthritis
23 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2002 2005
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
328 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2012 2013
Acute Inflammatory Demyelinating Polyneuropathy
CUI: C4551910
Disease: Acute Inflammatory Demyelinating Polyneuropathy
2 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2016 2016
Acute Motor Axonal Neuropathy
CUI: C3890941
Disease: Acute Motor Axonal Neuropathy
4 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2016 2016
Acute motor sensory axonal neuropathy
CUI: C3900111
Disease: Acute motor sensory axonal neuropathy
2 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2016 2016