CTSA, cathepsin A, 5476

N. diseases: 13; N. variants: 17
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: rs137854543
rs137854543 		1.000 0.080 20 45897736 missense variant A/G snv
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 0 1991 2000
dbSNP: rs137854541
rs137854541 		1.000 0.080 20 45891714 missense variant A/G snv 7.0E-06
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 0 1991 2008
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1991 2014
dbSNP: rs137854542
rs137854542 		1.000 0.080 20 45891990 missense variant C/T snv
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 0 1991 2000
dbSNP: rs137854545
rs137854545 		0.925 0.080 20 45892434 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 0 1991 2000
dbSNP: rs28934603
rs28934603 		1.000 0.080 20 45891761 stop lost T/C snv
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 0 1991 2000
dbSNP: rs786200859
rs786200859 		1.000 0.080 20 45893314 splice region variant A/G snv
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1993 2016
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		Cardiovascular Diseases 0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 1.000 3 1996 2014
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: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544 		0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		Cardiovascular 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
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777 		0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 1.000 3 1996 2014
dbSNP: rs786205670
rs786205670 		1.000 0.200 20 45892874 frameshift variant C/- delins
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015