PLAA, phospholipase A2 activating protein, 9373

N. diseases: 113; N. variants: 8
Disease: Claw hand ×
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: rs1426488816
rs1426488816 		0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06
CUI: C0221373
Disease: Claw hand
Claw hand 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0