ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
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: rs4737009
rs4737009 		1.000 0.080 8 41772887 intron variant G/A snv 0.33
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4737009
rs4737009 		1.000 0.080 8 41772887 intron variant G/A snv 0.33
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 2017 2017
dbSNP: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4737010
rs4737010 		8 41772929 intron variant G/A snv 0.32
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs488758
rs488758 		8 41750197 intron variant G/A snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6150565
rs6150565 		8 41655063 3 prime UTR variant AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC delins
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs6150565
rs6150565 		8 41655063 3 prime UTR variant AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs6150565
rs6150565 		8 41655063 3 prime UTR variant AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs6989203
rs6989203 		1.000 0.080 8 41666227 intron variant G/A snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6999814
rs6999814 		8 41803336 intron variant C/A snv 0.80
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7003385
rs7003385 		8 41729232 intron variant T/A;C snv
CUI: C1328319
Disease: Ankle brachial pressure index (observable entity)
Ankle brachial pressure index (observable entity) 		0.700 1.000 1 2012 2012
dbSNP: rs72638977
rs72638977 		8 41683104 intron variant A/G snv 1.8E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs72638977
rs72638977 		8 41683104 intron variant A/G snv 1.8E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs72638986
rs72638986 		8 41691973 intron variant G/A snv 2.0E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs745525088
rs745525088 		8 41714203 missense variant C/G;T snv 4.8E-06; 2.4E-05
CUI: C0085625
Disease: Hypoalgesia
Hypoalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs7461534
rs7461534 		8 41771132 intron variant A/G snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs748409227
rs748409227 		8 41708865 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs748409227
rs748409227 		8 41708865 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C0085625
Disease: Hypoalgesia
Hypoalgesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs750820522
rs750820522 		1.000 0.080 8 41688541 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs777701149
rs777701149 		1.000 0.080 8 41684619 stop gained G/A snv 7.0E-06
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs7823138
rs7823138 		8 41787343 intron variant T/C snv 0.79
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs786205243
rs786205243 		0.925 0.080 8 41708992 intron variant C/T snv
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs990174
rs990174 		8 41774712 intron variant C/T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012