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.
Inflammatory Bowel Disease 10
CUI: C1970207
Disease: Inflammatory Bowel Disease 10
1 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.700 1.000 11 2007 2016
Paratuberculosis
CUI: C0030524
Disease: Paratuberculosis
6 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2014 2014
Pediatric Crohn's disease
CUI: C2931133
Disease: Pediatric Crohn's disease
6 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2013 2013
Necrotizing Enterocolitis
CUI: C0520459
Disease: Necrotizing Enterocolitis
7 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Pharyngeal Carcinoma
CUI: C0747548
Disease: Pharyngeal Carcinoma
7 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Colonic Diseases
CUI: C0009373
Disease: Colonic Diseases
8 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
Inflammatory disorder
CUI: C1290884
Disease: Inflammatory disorder
8 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2018 2018
Malignant neoplasm of pharynx
CUI: C0153405
Disease: Malignant neoplasm of pharynx
9 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Urinary tract infection
CUI: C0042029
Disease: Urinary tract infection
14 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
Oral Cavity Carcinoma
CUI: C0151546
Disease: Oral Cavity Carcinoma
16 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
Necrotizing enterocolitis in fetus OR newborn
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
26 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Metastatic malignant neoplasm to brain
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
28 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Irritable Bowel Syndrome
CUI: C0022104
Disease: Irritable Bowel Syndrome
52 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
58 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2015 2015
Aggressive Periodontitis
CUI: C0031106
Disease: Aggressive Periodontitis
59 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2011 2011
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016