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: 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