Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950

2010
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004