COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis Bullosa Pruriginosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1275114
Disease:
Epidermolysis Bullosa Pruriginosa 		C 0.700 CausalMutation CLINVAR