COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Stickler syndrome, type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912946
rs121912946
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1861481
Disease:
Stickler syndrome, type 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912950
rs121912950
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1861481
Disease:
Stickler syndrome, type 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs750995470
rs750995470
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1861481
Disease:
Stickler syndrome, type 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864309477
rs864309477
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1861481
Disease:
Stickler syndrome, type 3 		G 0.700 CausalMutation CLINVAR