SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: NONAKA MYOPATHY ×
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: rs796051870
rs796051870 		0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0