rs192366176, SLC26A4

N. diseases: 4
Disease: Pendred's syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 CausalMutation CLINVAR Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. 23705809 2013