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 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.800 7 1991 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
87 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.720 1.000 24 1991 2017
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.710 1.000 4 2010 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
83 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.710 1.000 2 1991 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 16 1991 2017
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
55 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 3 1991 2006
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 2 2006 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
428 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
121 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
163 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
44 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
228 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
240 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2015 2015
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
223 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
223 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
180 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
149 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
66 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
53 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
103 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2015 2015