RRAS, RAS related, 6237

N. diseases: 149; N. variants: 3
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: rs368625677
rs368625677 		1.000 0.160 19 49637121 missense variant C/G;T snv 4.1E-06; 3.3E-05
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014