SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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: C0271829
Disease:
Pendred's syndrome 		A 0.810 CausalMutation CLINVAR
dbSNP: rs111033348
rs111033348
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs111033205
rs111033205
Entrez Id: 5172;286002
Gene Symbol: SLC26A4;SLC26A4-AS1
SLC26A4;SLC26A4-AS1
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs111033212
rs111033212
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs111033212
rs111033212
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs111033220
rs111033220
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111033254
rs111033254
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs111033303
rs111033303
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111033305
rs111033305
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs111033318
rs111033318
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs121908360
rs121908360
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908361
rs121908361
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs121908363
rs121908363
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908364
rs121908364
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908365
rs121908365
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs145254330
rs145254330
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs145254330
rs145254330
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201562855
rs201562855
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28939086
rs28939086
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs763006761
rs763006761
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		G 0.800 CausalMutation CLINVAR
dbSNP: rs80338848
rs80338848
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C3538946
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057516535
rs1057516535
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516634
rs1057516634
Entrez Id: 5172;286002
Gene Symbol: SLC26A4;SLC26A4-AS1
SLC26A4;SLC26A4-AS1
CUI: C0271829
Disease:
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516636
rs1057516636
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR