DisGeNET - a database of gene-disease associations

Retinal Dystrophy, Early Onset Severe, C1858080

Source: ALL

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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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs387906387

rs387906387

ABCA4

1

1.000

0.080

1

94079336

frameshift variant

T/-

delins

0.700

dbSNP:

rs61751383

rs61751383

ABCA4

6

0.827

0.080

1

94005500

stop gained

G/A

snv

2.8E-05

1.4E-05

0.700