DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Red Blood Cell Count measurement ×

Variant: rs218237 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs218237

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.800

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs218237

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs218237

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study of hematological and biochemical traits in a Japanese population.

20139978

2010