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: 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: 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
dbSNP: rs11728431
rs11728431 		1.000 0.040 4 112819845 intron variant A/G snv 1.0E-01
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs17044897
rs17044897 		1.000 0.040 4 112743327 downstream gene variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17044925
rs17044925 		1.000 0.040 4 112770269 regulatory region variant G/A snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17045462
rs17045462 		1.000 0.040 4 113046786 intron variant T/C snv 8.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17045918
rs17045918 		0.925 0.040 4 113329637 intron variant G/C snv 9.5E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17045918
rs17045918 		0.925 0.040 4 113329637 intron variant G/C snv 9.5E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17607420
rs17607420 		1.000 0.040 4 112776849 intergenic variant G/T snv 9.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs29356
rs29356 		4 113288576 intron variant T/C snv 0.16
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs34311906
rs34311906 		1.000 0.080 4 112810934 intergenic variant T/C snv 0.43
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34311906
rs34311906 		1.000 0.080 4 112810934 intergenic variant T/C snv 0.43
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs41496644
rs41496644 		4 112933404 intron variant T/A;G snv 0.12
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4364265
rs4364265 		1.000 0.040 4 112805438 intergenic variant T/C snv 0.60
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4626206
rs4626206 		1.000 0.040 4 112806976 intergenic variant C/A snv 0.60
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs5022543
rs5022543 		1.000 0.040 4 112762210 regulatory region variant C/T snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6828678
rs6828678 		1.000 0.040 4 112798156 non coding transcript exon variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6829775
rs6829775 		1.000 0.040 4 112798635 non coding transcript exon variant T/C snv 0.38
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017