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: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs193922637
rs193922637 		4 113356784 missense variant G/A snv 4.0E-05 7.0E-05
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs72544141
rs72544141 		0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs755287627
rs755287627 		1.000 0.120 4 113353494 missense variant A/G snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052197
rs796052197 		1.000 0.120 4 113354767 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052198
rs796052198 		1.000 0.120 4 113356741 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1408198357
rs1408198357 		1.000 0.120 4 113373391 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 1998 1998
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: 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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 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
dbSNP: rs72544141
rs72544141 		0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 1.000 1 2003 2003
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: rs1204372364
rs1204372364 		1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2004 2004
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: rs1181773712
rs1181773712 		1.000 0.040 4 113274554 missense variant G/A snv 7.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.700 1.000 1 2016 2016
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: rs10011263
rs10011263 		1.000 0.040 4 112807837 intergenic variant G/A snv 0.22
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11098185
rs11098185 		1.000 0.040 4 113047052 intron variant T/C snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11723518
rs11723518 		1.000 0.040 4 112770562 intergenic variant A/G snv 0.63
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017