RRAS2, RAS related 2, 22800

N. diseases: 48; N. variants: 4
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: rs113954997
rs113954997
0.882 0.280 11 14294844 missense variant T/A;C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0