TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
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: rs1057516264
rs1057516264
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554901898
rs1554901898
0.776 0.280 11 6616858 frameshift variant A/- delins
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554902217
rs1554902217
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309505
rs864309505
0.807 0.200 11 6615220 missense variant T/G snv
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0