Gene: COL1A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2017
dbSNP: rs72645370
rs72645370
COL1A1
C 0.700 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2017
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836

2017
dbSNP: rs72648337
rs72648337
COL1A1
T 0.700 CausalMutation CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836

2017
dbSNP: rs72651642
rs72651642
COL1A1
A 0.700 CausalMutation CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289

2017
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 28116328

2017
dbSNP: rs72645347
rs72645347
COL1A1
A 0.700 CausalMutation CLINVAR Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. 28102596

2017
dbSNP: rs72645318
rs72645318
COL1A1
A 0.700 CausalMutation CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872

2016
dbSNP: rs1555574151
rs1555574151
COL1A1
G 0.700 GeneticVariation CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266

2016
dbSNP: rs67693970
rs67693970
COL1A1
T 0.700 CausalMutation CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266

2016
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835

2016
dbSNP: rs1555571766
rs1555571766
COL1A1
T 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: rs1555572640
rs1555572640
COL1A1
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: rs1555575889
rs1555575889
COL1A1
C 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: rs1567764387
rs1567764387
COL1A1
C 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: rs1567766329
rs1567766329
COL1A1
T 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: rs1567766338
rs1567766338
COL1A1
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: rs67163049
rs67163049
COL1A1
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: rs67163049
rs67163049
COL1A1
T 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: rs67682641
rs67682641
COL1A1
T 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: rs67879854
rs67879854
COL1A1
T 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: rs72645318
rs72645318
COL1A1
A 0.700 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835

2016