DisGeNET - a database of gene-disease associations

rs566629828, SMIM1

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.

RDW - Red blood cell distribution width result

CUI:	C1304746
Disease:	RDW - Red blood cell distribution width result

988

1

3775434

frameshift variant

AGCCTAGGGGCTGTGTC/-

delins

9.2E-03

0.700

1.000

2016

2017

Red cell distribution width determination

CUI:	C0427460
Disease:	Red cell distribution width determination

988

1

3775434

frameshift variant

AGCCTAGGGGCTGTGTC/-

delins

9.2E-03

0.700

1.000

2016

2017