ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912705
rs121912705
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1970119
Disease:
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.800 GeneticVariation UNIPROT Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. 17940615 2007
dbSNP: rs121912705
rs121912705
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1970119
Disease:
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.800 GeneticVariation UNIPROT A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 15178757 2004
dbSNP: rs121912705
rs121912705
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1970119
Disease:
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		0.800 GeneticVariation UNIPROT Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 12571597 2003
dbSNP: rs121912705
rs121912705
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1970119
Disease:
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		A 0.800 CausalMutation CLINVAR