COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Stickler syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601355
rs672601355
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0265253
Disease:
Stickler syndrome (disorder) 		GGACCCAGGA 0.700 CausalMutation CLINVAR