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 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.900 0.961 51 2007 2020
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.100 0.833 12 2007 2019
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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
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
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
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
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
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
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.020 1.000 2 2014 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
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
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
Malignant neoplasm of colon and/or rectum
502 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
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
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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
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
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