rs763198695, SLC26A2

N. diseases: 5
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
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