DisGeNET - a database of gene-disease associations

ATP1B3, ATPase Na+/K+ transporting subunit beta 3, 483

N. diseases: 14; N. variants: 3

Disease: Hair Color ×

Variant: rs3804772 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs3804772

rs3804772

Entrez Id:	483
Gene Symbol:	ATP1B3

ATP1B3

CUI:	C0018498
Disease:

Hair Color

A

0.700

GeneticVariation

GWASCAT

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

2018