CTSA, cathepsin A, 5476

N. diseases: 13; N. variants: 17
Disease: Generalized hypotonia ×
Source: CLINVAR ×
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: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1996 2014