COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Lobstein Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567766338
rs1567766338
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
dbSNP: rs1567766338
rs1567766338
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. 25696019 2015
dbSNP: rs1567766338
rs1567766338
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. 23529829 2013