rs763198695, SLC26A2

N. diseases: 5
Disease: Diastrophic dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 GeneticVariation CLINVAR Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 20592910 2010