Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596

2012
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204

2010
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940

2001
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 8571951

1996