rs1057517809, PTEN

N. diseases: 4
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 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 1.000 1 2016 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0