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.
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
61 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.800 23 1990 2017
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
87 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.720 1.000 15 1992 2017
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
74 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.720 1.000 3 2007 2015
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
180 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.710 1.000 2 2014 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 9 2000 2018
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
55 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 8 1990 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 4 2014 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 3 1998 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 2 2015 2016
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
3 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 2 1992 1993
Choroid Plexus Papilloma
CUI: C0205770
Disease: Choroid Plexus Papilloma
5 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
66 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
4 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
ADRENOCORTICAL CARCINOMA, HEREDITARY
1 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
44 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
225 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
121 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
60 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
1 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
223 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
163 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
83 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2016 2016
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
240 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015