ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: SPHEROCYTOSIS, TYPE 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140085544
rs140085544
Entrez Id: 286
Gene Symbol: ANK1
ANK1
CUI: C2674218
Disease:
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.700 GeneticVariation UNIPROT Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. 11102985 2000
dbSNP: rs140085544
rs140085544
Entrez Id: 286
Gene Symbol: ANK1
ANK1
CUI: C2674218
Disease:
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.700 GeneticVariation UNIPROT Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. 8640229 1996