rs786204900, PTEN

N. diseases: 2
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.080 10 87933246 frameshift variant AA/-;A delins 0.700 1.000 9 2002 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 1.000 0.080 10 87933246 frameshift variant AA/-;A delins 0.700 1.000 5 2002 2014