rs763198695, SLC26A2

N. diseases: 5
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
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