rs786204675, SLC26A2

N. diseases: 2
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 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838 2001
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 GeneticVariation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996