DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs62645944 ×

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:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.710

1.000

1999

2017

dbSNP:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.710

1.000

2004

2019

dbSNP:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C0730292
Disease:	Macular dystrophy

Macular dystrophy

0.700

1.000

2019

2019

dbSNP:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C3495438
Disease:	Macular Degeneration, Age-Related, 2

Macular Degeneration, Age-Related, 2

0.700

dbSNP:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C1858806
Disease:	CONE-ROD DYSTROPHY 3 (disorder)

CONE-ROD DYSTROPHY 3 (disorder)

0.700

dbSNP:

rs62645944

rs62645944

ABCA4

0.807

0.080

1

94098794

splice region variant

C/A

snv

8.8E-05

6.3E-05

CUI:	C1866422
Disease:	RETINITIS PIGMENTOSA 19

RETINITIS PIGMENTOSA 19

0.700