COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Lobstein Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72656375
rs72656375
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 GeneticVariation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs72656375
rs72656375
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 GeneticVariation CLINVAR Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023 2006
dbSNP: rs72656375
rs72656375
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 GeneticVariation CLINVAR Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. 3372533 1988
dbSNP: rs72656375
rs72656375
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 GeneticVariation CLINVAR A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 2993307 1985
dbSNP: rs72656375
rs72656375
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		G 0.700 GeneticVariation CLINVAR Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. 6092353 1984