COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: OSTEOGENESIS IMPERFECTA, TYPE IIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72656331
rs72656331
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4015949
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IIC 		A 0.700 CausalMutation CLINVAR