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 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.800 3 1993 2006
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
163 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.800 1 2016 2016
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
87 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.720 1.000 19 1994 2017
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.710 1.000 2 2010 2016
Squamous cell carcinoma of the head and neck
288 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.710 1.000 2 2007 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 3 2010 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 3 2014 2014
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
55 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 2 1993 1998
Transitional cell carcinoma of bladder
147 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
121 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
175 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Papillary renal cell carcinoma, sporadic
30 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
83 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
223 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
228 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
149 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
180 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
98 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
428 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
4 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 0