DisGeNET - a database of gene-disease associations

rs7255045, HOOK2

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.

Mean Corpuscular Volume (result)

CUI:	C0524587
Disease:	Mean Corpuscular Volume (result)

549

19

12821455

intron variant

G/A

snv

0.37

0.800

1.000

2009

2017

Corpuscular Hemoglobin Concentration Mean

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

4389

19

12821455

intron variant

G/A

snv

0.37

0.700

1.000

2012

2012