Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045142
rs797045142
COL17A1
0.800 GeneticVariation UNIPROT

dbSNP: rs797045142
rs797045142
COL17A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs760714959
rs760714959
COL17A1
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
COL17A1
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
COL17A1
A 0.720 CausalMutation CLINVAR