CTSA, cathepsin A, 5476

N. diseases: 13; N. variants: 17
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE ×
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: rs137854545
rs137854545 		0.925 0.080 20 45892434 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
GALACTOSIALIDOSIS, EARLY INFANTILE 		0.700 0
dbSNP: rs137854546
rs137854546 		0.925 0.080 20 45894002 missense variant T/C snv
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
GALACTOSIALIDOSIS, EARLY INFANTILE 		0.700 0
dbSNP: rs137854547
rs137854547 		0.925 0.080 20 45898065 missense variant G/A snv 1.2E-05
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
GALACTOSIALIDOSIS, EARLY INFANTILE 		0.700 0