Gene: COL1A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1555574177
rs1555574177
COL1A1
T 0.700 CausalMutation CLINVAR Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta. 27132807

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: 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: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family. 26712438

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
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: rs72645318
rs72645318
COL1A1
A 0.700 CausalMutation CLINVAR Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. 27484908

2016
dbSNP: rs72648326
rs72648326
COL1A1
A 0.700 CausalMutation CLINVAR Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta. 27132807

2016
dbSNP: rs72651658
rs72651658
COL1A1
T 0.700 CausalMutation CLINVAR Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. 27484908

2016
dbSNP: rs72653140
rs72653140
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: rs72653147
rs72653147
COL1A1
A 0.700 CausalMutation CLINVAR Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients. 27044453

2016
dbSNP: rs762428889
rs762428889
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
dbSNP: rs797045033
rs797045033
COL1A1
T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1114167374
rs1114167374
COL1A1
C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167375
rs1114167375
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167377
rs1114167377
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015