Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 1992 2017
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 5 2003 2014
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		0.700 0