DisGeNET - a database of gene-disease associations

rs199474785, NF1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Neurofibromatosis 1

CUI:	C0027831
Disease:	Neurofibromatosis 1

827

1.000

0.120

17

31229145

missense variant

C/T

snv

0.800

1.000

1990

2016

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

1.000

0.120

17

31229145

missense variant

C/T

snv

0.700

1.000

2000

2015