COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Epithelial Recurrent Erosion Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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