DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs1175550, SMIM1

N. diseases: 5

Disease: Corpuscular Hemoglobin Concentration Mean ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Corpuscular Hemoglobin Concentration Mean

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASCAT

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

27863252

2016

Corpuscular Hemoglobin Concentration Mean

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

0.800

GeneticVariation

GWASDB

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

23222517

2012