Disease: NOONAN SYNDROME 3 ×
Source: CLINVAR ×
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: rs397517154
rs397517154 		0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2007 2011
dbSNP: rs574088829
rs574088829 		0.925 0.160 2 39012319 missense variant T/A;G snv 4.0E-06
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2007 2013