SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Sensorineural Hearing Loss (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033256
rs111033256
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. 30077349 2019
dbSNP: rs121908361
rs121908361
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss. 25572613 2015
dbSNP: rs539699299
rs539699299
Entrez Id: 5172;286002
Gene Symbol: SLC26A4;SLC26A4-AS1
SLC26A4;SLC26A4-AS1
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild type SLC26A4 (pendrin) and a mutant (SLC26A4(S28R)) we recently described in a patient with hypothyroidism, goiter and sensorineural hearing loss. 16791000 2006