Disease: Pendred's syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1130183
rs1130183
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C0271829
Disease:
Pendred's syndrome 		0.010 GeneticVariation BEFREE It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy. 23965030 2013