DisGeNET - a database of gene-disease associations

Fuchs Endothelial Dystrophy, C0016781

Variant: rs80358192 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80358192

rs80358192

COL8A2

0.010

GeneticVariation

BEFREE

All affected individuals were analyzed for the two previously reported FECD mutations in the COL8A2 gene (L450W and Q455K).

2009