Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912870
rs121912870
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912874
rs121912874
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912883
rs121912883
G 0.800 CausalMutation CLINVAR

dbSNP: rs121912886
rs121912886
A 0.800 CausalMutation CLINVAR

dbSNP: rs864621973
rs864621973
T 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015

dbSNP: rs121912893
rs121912893
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555164872
rs1555164872
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555167783
rs1555167783
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565664095
rs1565664095
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565679062
rs1565679062
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
T 0.700 CausalMutation CLINVAR