COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291 2000
dbSNP: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. 10636730 1999
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. 9199555 1997
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. 9204958 1997
dbSNP: rs752317971
rs752317971
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. 9077475 1997
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. 8669466 1996
dbSNP: rs1064793760
rs1064793760
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1210666598
rs1210666598
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121912769
rs121912769
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912769
rs121912769
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C2608084
Disease:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912770
rs121912770
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C2608084
Disease:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912772
rs121912772
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912774
rs121912774
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs760094345
rs760094345
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1857042
Disease:
Sparse scalp hair 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1866510
Disease:
Discolored lateral incisors 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C2047516
Disease:
Hyperkeratotic papule 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0221260
Disease:
Dystrophia unguium 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0009806
Disease:
Constipation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C4021157
Disease:
Generalized abnormality of skin 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0037268
Disease:
Skin Abnormalities 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0406438
Disease:
Pterygium of nail 		G 0.700 CausalMutation CLINVAR