Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517303
rs1057517303
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs1057517303
rs1057517303
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. 24105851

2014
dbSNP: rs1057517303
rs1057517303
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. 23185506

2012