Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554359670
rs1554359670
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1554359670
rs1554359670
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900

2010
dbSNP: rs1554359670
rs1554359670
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003