DisGeNET - a database of gene-disease associations

Nystagmus, C0028738

Variant: rs142248415 ×

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:

rs142248415

rs142248415

MANBA

0.010

GeneticVariation

BEFREE

An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus.

2015