Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239

1996