rs72651642, COL1A1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289 2017
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357 2012
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. 8808594 1996