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.
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2004 2004
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2005 2005
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
22 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2005 2005
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
leiomyosarcoma
CUI: C0023269
Disease: leiomyosarcoma
5 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
32 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Oropharynx (excludes nasopharynx)
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
5 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
T-Cell Lymphoma
CUI: C0079772
Disease: T-Cell Lymphoma
24 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
Carcinoma of urinary bladder, superficial
CUI: C1336527
Disease: Carcinoma of urinary bladder, superficial
6 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2009 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1 2011 2011
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2012 2012
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2012 2012
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1 2013 2013
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1 2013 2013
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1 2013 2013
Meningioma
CUI: C0025286
Disease: Meningioma
43 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2013 2013
Squamous cell carcinoma of oropharynx
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
33 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2013 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.030 1.000 3 2011 2014
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 0.500 2 2011 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 0.500 2 2011 2014
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
Malignant neoplasm of larynx
CUI: C0007107
Disease: Malignant neoplasm of larynx
50 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014