Gene: COL1A1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645331
rs72645331
COL1A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs72645341
rs72645341
COL1A1
A 0.800 CausalMutation CLINVAR

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
dbSNP: rs1114167379
rs1114167379
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167381
rs1114167381
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167384
rs1114167384
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167395
rs1114167395
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167396
rs1114167396
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167399
rs1114167399
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167402
rs1114167402
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167406
rs1114167406
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1228746935
rs1228746935
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555571647
rs1555571647
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555574158
rs1555574158
COL1A1
A 0.700 CausalMutation CLINVAR Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. 23529829

2013
dbSNP: rs1555574641
rs1555574641
COL1A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575370
rs1555575370
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567759402
rs1567759402
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567760736
rs1567760736
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567761950
rs1567761950
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567762257
rs1567762257
COL1A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs193922149
rs193922149
COL1A1
A 0.700 CausalMutation CLINVAR

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: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation 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