DisGeNET - a database of gene-disease associations

Variant: rs10160596 ×

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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:

rs10160596

EHBP1L1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASCAT

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

2016