DisGeNET - a database of gene-disease associations

rs606231473, CSF3R

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.

NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE

CUI:	C4310764
Disease:	NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE

7

1.000

1

36472313

missense variant

G/A

snv

0.800

Severe congenital neutropenia

CUI:	C1853118
Disease:	Severe congenital neutropenia

26

1.000

1

36472313

missense variant

G/A

snv

0.700