PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Bannayan-Riley-Ruvalcaba Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863224909
rs863224909 		0.732 0.360 10 87960952 stop gained C/A;G snv
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587782350
rs587782350 		0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 1999 1999