RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
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: rs672601335
rs672601335
0.882 0.160 1 155904456 missense variant C/G 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 4 2013 2014