rs886044555, COL2A1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.010 GeneticVariation BEFREE Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. 28738883 2017
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.010 GeneticVariation BEFREE Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. 28738883 2017
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
0.010 GeneticVariation BEFREE This is the first familial report of G546S mutation in the COL2A1 gene that results in SEDC. 24736929 2014