AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
Disease: Osteopathia striata ×
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: rs137852216
rs137852216 		0.925 0.080 X 64192230 stop gained G/A snv
CUI: C0265513
Disease: Osteopathia striata
Osteopathia striata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012