DisGeNET - a database of gene-disease associations

ANHAPTOGLOBINEMIA, C3279786

Variant: rs104894517 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894517

HP ; TXNL4B

0.800

GeneticVariation

UNIPROT

A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.

14999562

2004

dbSNP:

rs104894517

HP ; TXNL4B

0.800

GeneticVariation

CLINVAR