DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Neurofibromatosis 1 ×

Variant: rs768638173 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs768638173

rs768638173

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

GeneticVariation

BEFREE

Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty.

2015