Source: CURATED

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: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.949 10 2001 2019
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.800 1.000 2 2011 2015
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 0.846 1 2002 2018
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.730 0.750 1 2002 2016
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.710 1.000 8 2003 2011
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.710 1.000 1 2006 2016
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		0.700 1.000 8 2003 2011
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016