KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Noonan 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: rs193929331
rs193929331 		0.925 0.160 12 25245372 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2014