Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72659310
rs72659310
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
A 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859

2015

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023

2006

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 15241796

2004

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 15077201

2004

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. 11288717

2001

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. 3372533

1988

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 2993307

1985

dbSNP: rs72659310
rs72659310
A 0.700 CausalMutation CLINVAR Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. 6092353

1984