Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893921
rs104893921
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
CUI: C0220726
Disease:
Diastrophic dysplasia
C 0.700 CausalMutation CLINVAR