rs121912657, TP53

N. diseases: 24
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
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 18 1990 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 5 1992 2011
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 0
Childhood Kidney Wilms Tumor
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
36 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
11 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
secondary acute myeloid leukemia
CUI: C0280449
Disease: secondary acute myeloid leukemia
8 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015