COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Stickler syndrome, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR