Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912878
rs121912878
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912879
rs121912879
COL2A1 ; LOC105369752
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912888
rs121912888
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912874
rs121912874
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912899
rs121912899
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555165335
rs1555165335
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555166729
rs1555166729
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1565681966
rs1565681966
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs868417981
rs868417981
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		T 0.700 GeneticVariation CLINVAR