AOAH, acyloxyacyl hydrolase, 313

N. diseases: 23; N. variants: 1
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: rs4504543
rs4504543
1.000 0.080 7 36643290 intron variant T/C snv 0.41
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012