rs137854544, CTSA

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
19 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.800 1.000 5 1991 2014
Aortic Valve Stenosis
CUI: C0003507
Disease: Aortic Valve Stenosis
19 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Mild conductive hearing impairment
CUI: C4021536
Disease: Mild conductive hearing impairment
2 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
GALACTOSIALIDOSIS, LATE INFANTILE
CUI: C4017292
Disease: GALACTOSIALIDOSIS, LATE INFANTILE
6 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 0