rs1057519368, 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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 1.000 2 2016 2017
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 1.000 1 2017 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0