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.
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
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
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
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
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
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
31 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.040 1.000 4 2014 2019
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
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
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2018 2018
B-Cell Lymphomas
CUI: C0079731
Disease: B-Cell Lymphomas
42 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
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
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
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
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
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
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
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2018 2018
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2018 2018
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
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
leukemia
CUI: C0023418
Disease: leukemia
144 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2012 2015