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: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C2132198
Disease:
Abnormal blistering of the skin 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C4023528
Disease:
Abnormality of skin morphology 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1856765
Disease:
Irregular dentition 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C3277900
Disease:
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765243124
rs765243124
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0262444
Disease:
Abnormality of the dentition 		G 0.700 CausalMutation CLINVAR
dbSNP: rs797045084
rs797045084
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs760714959
rs760714959
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1852551
Disease:
Epithelial Recurrent Erosion Dystrophy 		0.720 GeneticVariation BEFREE Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. 29708937 2018
dbSNP: rs760714959
rs760714959
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1852551
Disease:
Epithelial Recurrent Erosion Dystrophy 		0.720 GeneticVariation BEFREE We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. 25676728 2015
dbSNP: rs760714959
rs760714959
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1852551
Disease:
Epithelial Recurrent Erosion Dystrophy 		A 0.720 CausalMutation CLINVAR
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005 2002
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237 2000
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291 2000
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 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: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 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: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs797045142
rs797045142
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1852551
Disease:
Epithelial Recurrent Erosion Dystrophy 		0.800 GeneticVariation UNIPROT
dbSNP: rs797045142
rs797045142
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1852551
Disease:
Epithelial Recurrent Erosion Dystrophy 		A 0.800 CausalMutation CLINVAR