Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Pendred syndrome: study of three families. 16482981

2005
dbSNP: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880

2005
dbSNP: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 12112665

2002