RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Disease: Costello syndrome (disorder) ×
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: rs754945616
rs754945616 		0.882 0.120 5 87268639 missense variant G/T snv 4.2E-06
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs774248606
rs774248606 		1.000 0.080 5 87268482 missense variant G/A snv 6.3E-06
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013