DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs61751383 ×

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:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

STARGARDT DISEASE 1 (disorder)

0.700

1.000

1999

2019

dbSNP:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

1999

1999

dbSNP:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

CUI:	C1866422
Disease:	RETINITIS PIGMENTOSA 19

RETINITIS PIGMENTOSA 19

0.700

dbSNP:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

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

CONE-ROD DYSTROPHY 3 (disorder)

0.700

dbSNP:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

CUI:	C1858080
Disease:	Retinal Dystrophy, Early Onset Severe

Retinal Dystrophy, Early Onset Severe

0.700

dbSNP:

rs61751383

rs61751383

ABCA4

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

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

Macular Degeneration, Age-Related, 2

0.700