Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1998
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 9398842

1997