Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150571175
rs150571175
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C1853959
Disease:
Birdshot chorioretinopathy 		A 0.800 GeneticVariation GWASDB A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
dbSNP: rs150571175
rs150571175
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C1853959
Disease:
Birdshot chorioretinopathy 		A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
dbSNP: rs1190545
rs1190545
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs750908377
rs750908377
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
dbSNP: rs751970061
rs751970061
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
dbSNP: rs751970061
rs751970061
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
dbSNP: rs751970061
rs751970061
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. 26431026 2015
dbSNP: rs751970061
rs751970061
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
dbSNP: rs751970061
rs751970061
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
dbSNP: rs1555451465
rs1555451465
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567314662
rs1567314662
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
CUI: C3542549
Disease:
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR