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: C0406438
Disease:
Pterygium of nail
G 0.700 CausalMutation CLINVAR