TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516945
rs1057516945
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836830
Disease:
Developmental regression
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057516945
rs1057516945
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517313
rs1057517313
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060502179
rs1060502179
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
C 0.700 GeneticVariation CLINVAR
dbSNP: rs113019349
rs113019349
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1184563885
rs1184563885
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs119455953
rs119455953
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs119455956
rs119455956
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs119455957
rs119455957
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs119455957
rs119455957
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
A 0.700 CausalMutation CLINVAR
dbSNP: rs119455958
rs119455958
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908199
rs121908199
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908200
rs121908200
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908209
rs121908209
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
T 0.700 CausalMutation CLINVAR
dbSNP: rs1407106889
rs1407106889
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1424116749
rs1424116749
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901463
rs1554901463
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901576
rs1554901576
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901580
rs1554901580
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
AGGCACGGCCACT 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901731
rs1554901731
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4025860
Disease:
Hearing abnormality
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0026106
Disease:
Mild Mental Retardation
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1851400
Disease:
Facial Hypertrichosis
G 0.700 GeneticVariation CLINVAR