COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3736638
rs3736638
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs3736638
rs3736638
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C2699541
Disease:
Cytokine Measurement 		A 0.800 GeneticVariation GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs67865220
rs67865220
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0268362
Disease:
Osteogenesis imperfecta type III (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs67865220
rs67865220
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0268362
Disease:
Osteogenesis imperfecta type III (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs121912911
rs121912911
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0268362
Disease:
Osteogenesis imperfecta type III (disorder) 		0.710 GeneticVariation BEFREE Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. 8728690 1996
dbSNP: rs121912911
rs121912911
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0268362
Disease:
Osteogenesis imperfecta type III (disorder) 		C 0.710 CausalMutation CLINVAR
dbSNP: rs42528
rs42528
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1554396271
rs1554396271
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840 2018
dbSNP: rs1554396271
rs1554396271
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337 2018
dbSNP: rs66619856
rs66619856
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		A 0.700 CausalMutation CLINVAR Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 26371943 2018
dbSNP: rs66619856
rs66619856
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		A 0.700 CausalMutation CLINVAR Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 26371943 2018
dbSNP: rs72658127
rs72658127
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337 2018
dbSNP: rs72658127
rs72658127
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840 2018
dbSNP: rs72658127
rs72658127
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337 2018
dbSNP: rs72658127
rs72658127
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840 2018
dbSNP: rs72659310
rs72659310
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		A 0.700 CausalMutation CLINVAR Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 29595812 2018
dbSNP: rs72659310
rs72659310
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		A 0.700 CausalMutation CLINVAR Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 29595812 2018
dbSNP: rs1554395431
rs1554395431
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		A 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs1554395431
rs1554395431
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		A 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs1554395471
rs1554395471
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		C 0.700 GeneticVariation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs1554395471
rs1554395471
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		C 0.700 GeneticVariation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs1562907190
rs1562907190
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		C 0.700 GeneticVariation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs1562907190
rs1562907190
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		C 0.700 GeneticVariation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
dbSNP: rs67865220
rs67865220
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		A 0.700 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924 2017
dbSNP: rs67865220
rs67865220
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		A 0.700 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924 2017