rs786201044, PTEN

N. diseases: 6
Source: CURATED ×
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.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
107 0.827 0.200 10 87933165 missense variant T/C snv 0.710 0.857 7 2000 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.827 0.200 10 87933165 missense variant T/C snv 0.700 1.000 10 2000 2014
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.827 0.200 10 87933165 missense variant T/C snv 0.700 1.000 6 2000 2014
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
7 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0
Mediastinal Germ Cell Tumor
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
2 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
547 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0