DisGeNET - a database of gene-disease associations

Macular dystrophy, C0730292

Variant: rs868349465 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs868349465

rs868349465

EYS

0.710

GeneticVariation

BEFREE

Two siblings with macular dystrophy carried compound heterozygous EYS variants: c.1299+5_1299+8del and c.6050G>T.

2019

dbSNP:

rs868349465

rs868349465

EYS

A

0.710

CausalMutation

CLINVAR