ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
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: rs72544141
rs72544141
0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2003 2007
dbSNP: rs1204372364
rs1204372364
1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs35530544
rs35530544
1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs755373114
rs755373114
0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018