NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
Disease: Noonan Syndrome 6 ×
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: rs267606920
rs267606920 		0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 2 2010 2010
dbSNP: rs267606921
rs267606921 		0.882 0.160 1 114713941 missense variant G/A snv
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 2 2010 2010
dbSNP: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0