rs121912651, TP53

N. diseases: 53
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.
Abnormality of the tongue
CUI: C0878638
Disease: Abnormality of the tongue
2 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.760 0.857 7 1999 2019
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.820 1.000 34 1990 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 19 1990 2017
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 4 2010 2016
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 1990 2011
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 2016 2017
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2006 2016
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 1991 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016