DisGeNET - a database of gene-disease associations

Variant: rs10274553 ×

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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:

rs10274553

CTB-30L5.1

CUI:	C0200665
Disease:	Platelet mean volume determination (procedure)

Platelet mean volume determination (procedure)

0.700

GeneticVariation

GWASCAT

GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort.

2019