DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs80338848 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.810

1.000

1997

2019

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

1.000

1998

2017

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C0231706
Disease:	Circling gait

Circling gait

0.010

1.000

2019

dbSNP:

rs80338848

SLC26A4

0.851

0.240

107675051

missense variant

T/C

snv

2.7E-04

3.4E-04

CUI:	C0040485
Disease:	Torticollis

Torticollis

0.010

1.000

2019