Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912884
rs121912884
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1025202963
rs1025202963
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912866
rs121912866
COL2A1 ; LOC105369752
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912869
rs121912869
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912873
rs121912873
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121912874
rs121912874
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912876
rs121912876
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1246771678
rs1246771678
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555164735
rs1555164735
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555165204
rs1555165204
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555166218
rs1555166218
COL2A1 ; LOC105369752
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555166295
rs1555166295
COL2A1 ; LOC105369752
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555166555
rs1555166555
COL2A1 ; LOC105369752
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555166658
rs1555166658
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555168309
rs1555168309
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555168965
rs1555168965
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748459670
rs748459670
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886043356
rs886043356
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		T 0.700 GeneticVariation CLINVAR