rs121912931, COL9A1

N. diseases: 3
Disease: Stickler syndrome, type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
0.010 GeneticVariation BEFREE None of the family members except the homozygous R295X carriers had any signs of Stickler syndrome. 16909383 2006