CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 ×
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: 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: 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: 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