rs55832599, TP53

N. diseases: 13
Source: CLINVAR ×
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
6385 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
157 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
6 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
7 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
7 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
142 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
802 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
6 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
20 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
22 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0