ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912705
rs121912705 		1.000 0.080 4 113367764 missense variant C/A snv 6.3E-04 7.5E-04
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 3 2003 2007
dbSNP: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 3 2003 2007
dbSNP: rs199473346
rs199473346 		1.000 0.080 4 113363439 missense variant T/A snv 2.8E-05 7.0E-06
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 3 2006 2017
dbSNP: rs35530544
rs35530544 		1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 3 2003 2007
dbSNP: rs45454496
rs45454496 		1.000 0.080 4 113373381 missense variant G/A snv 2.8E-03 2.3E-03
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 3 2003 2007
dbSNP: rs72544141
rs72544141 		0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04
CUI: C1970119
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2003 2003