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: rs72653140
rs72653140
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: rs72653140
rs72653140
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs72653140
rs72653140
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
dbSNP: rs72653140
rs72653140
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs72653140
rs72653140
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993