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: rs72658193
rs72658193
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
dbSNP: rs72658193
rs72658193
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		0.700 GeneticVariation UNIPROT Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 16705691 2006
dbSNP: rs72658193
rs72658193
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		0.700 GeneticVariation UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649 1996
dbSNP: rs72658193
rs72658193
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		0.700 GeneticVariation UNIPROT Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 8456807 1993
dbSNP: rs72658193
rs72658193
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		0.700 GeneticVariation UNIPROT The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. 1990009 1991