HP, haptoglobin, 3240

N. diseases: 464; N. variants: 9
Disease: ANHAPTOGLOBINEMIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894517
rs104894517
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C3279786
Disease:
ANHAPTOGLOBINEMIA 		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
rs104894517
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C3279786
Disease:
ANHAPTOGLOBINEMIA 		C 0.800 GeneticVariation CLINVAR