COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Kniest dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565686170
rs1565686170
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265279
Disease:
Kniest dysplasia 		G 0.700 GeneticVariation CLINVAR Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 23188137 2013