rs66773001, COL1A2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation 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
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation 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
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation CLINVAR Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. 11359465 2001
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation CLINVAR Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. 11359465 2001
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. 10408781 1999
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation CLINVAR The human type I collagen mutation database. 9016532 1997
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation CLINVAR The human type I collagen mutation database. 9016532 1997
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
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
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927 1996
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 8723681 1996
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 7749416 1995
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. 7720740 1995
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 7860070 1995
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. 8081394 1994
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724 1994
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420 1994
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 GeneticVariation UNIPROT Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 8456807 1993