Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. 26358419

2016
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 26626311

2016
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Association between Kniest dysplasia and chondrosarcoma in a child. 26345137

2015
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 26250472

2015
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 25604898

2015
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. 22791362

2012
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 20179744

2010
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Basic helix-loop-helix factors in cortical development. 12848929

2003
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. 12925722

2003
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Clinical and Molecular genetics of Stickler syndrome. 10353778

1999
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides. 9724608

1998
dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). 1971141

1990