DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs398123339 ×

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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:

rs398123339

rs398123339

ABCA4

0.851

0.120

1

94113068

splice acceptor variant

T/C

snv

4.0E-06

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.700

1.000

2017

2017

dbSNP:

rs398123339

rs398123339

ABCA4

0.851

0.120

1

94113068

splice acceptor variant

T/C

snv

4.0E-06

CUI:	C0024437
Disease:	Macular degeneration

Macular degeneration

0.700

dbSNP:

rs398123339

rs398123339

ABCA4

0.851

0.120

1

94113068

splice acceptor variant

T/C

snv

4.0E-06

CUI:	C0521694
Disease:	Atrophic retina

Atrophic retina

0.700

dbSNP:

rs398123339

rs398123339

ABCA4

0.851

0.120

1

94113068

splice acceptor variant

T/C

snv

4.0E-06

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs398123339

rs398123339

ABCA4

0.851

0.120

1

94113068

splice acceptor variant

T/C

snv

4.0E-06

CUI:	C0152191
Disease:	Scotoma, Central

Scotoma, Central

0.700