CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
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: rs143889283
rs143889283 		1.000 11 66566320 missense variant T/C snv 4.8E-05 7.7E-05
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 1.000 1 2013 2013
dbSNP: rs2242663
rs2242663 		1.000 0.040 11 66567837 intron variant T/C snv 0.23
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2009 2009
dbSNP: rs397514731
rs397514731 		1.000 11 66565833 missense variant T/C snv
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 1.000 1 2013 2013
dbSNP: rs397514732
rs397514732 		1.000 11 66564095 missense variant C/G;T snv 4.0E-06
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 1.000 1 2013 2013
dbSNP: rs397514733
rs397514733 		1.000 11 66563949 missense variant G/A snv 4.0E-06
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 1.000 1 2013 2013
dbSNP: rs1791679
rs1791679 		11 66570403 upstream gene variant C/A;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4630309
rs4630309 		11 66565601 intron variant C/A;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs1555058286
rs1555058286 		1.000 11 66566045 frameshift variant CC/- delins
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 0
dbSNP: rs375562245
rs375562245 		11 66566363 stop gained G/A;C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs753084727
rs753084727 		1.000 11 66565841 frameshift variant G/- del 1.2E-05 1.4E-05
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 0
dbSNP: rs797045136
rs797045136 		1.000 11 66568273 splice donor variant C/G snv
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 0
dbSNP: rs765758974
rs765758974 		1.000 0.120 11 66567559 stop gained G/A;T snv 4.0E-06; 2.8E-05
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018