rs55832599, TP53

N. diseases: 18
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.716 0.360 17 7673821 missense variant G/A snv 0.700 1.000 14 1992 2017
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.716 0.360 17 7673821 missense variant G/A snv 0.700 1.000 5 2003 2014
ADRENOCORTICAL CARCINOMA, HEREDITARY
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
7 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
7 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Choroid Plexus Papilloma
CUI: C0205770
Disease: Choroid Plexus Papilloma
17 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
14 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2012 2012
Neurilemmoma
CUI: C0027809
Disease: Neurilemmoma
11 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2012 2012