DisGeNET - a database of gene-disease associations

Corpuscular Hemoglobin Concentration Mean, C4528257

Variant: rs2022003 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2022003

rs2022003

SPTA1

T

0.800

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

2016

dbSNP:

rs2022003

rs2022003

SPTA1

0.800

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

2012