COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis bullosa, pretibial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1203706188
rs1203706188
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432321
Disease:
Epidermolysis bullosa, pretibial 		A 0.700 CausalMutation CLINVAR