Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337

2018
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840

2018
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. 24140640

2013
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. 21801164

2012
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 21344539

2011
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. 21912751

2011
dbSNP: rs72658127
rs72658127
COL1A2
G 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
dbSNP: rs72658127
rs72658127
COL1A2
G 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: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 9557891

1998
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 9295084

1997
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. 8071956

1994
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Mutations in collagen genes: causes of rare and some common diseases in humans. 2010058

1991
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Organization of the human pro-alpha 2(I) collagen gene. 2824475

1987
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828

1979