rs587782360, PTEN

N. diseases: 5
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.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 20 1997 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 7 1999 2012
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.851 0.280 10 87933162 missense variant A/G snv 0.700 1.000 4 1999 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.280 10 87933162 missense variant A/G snv 0.700 0
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.851 0.280 10 87933162 missense variant A/G snv 0.010 1.000 1 2008 2008