EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: PTEN Hamartoma Tumor 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: rs886037891
rs886037891 		0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0