ZFHX3, zinc finger homeobox 3, 463

N. diseases: 85; N. variants: 39
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: rs727502780
rs727502780 		1.000 16 72788111 inframe insertion TAGTTGCCGCTGCTGCTGCTGCTG/-;TAGTTGCCGCTGCTGCTGCTGCTGTAGTTGCCGCTGCTGCTGCTGCTG delins 3.4E-04
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0
dbSNP: rs769603301
rs769603301 		16 72811684 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1381855646
rs1381855646 		0.925 0.080 16 72959537 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1381855646
rs1381855646 		0.925 0.080 16 72959537 synonymous variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.900 0.929 14 2009 2019
dbSNP: rs7193343
rs7193343 		0.882 0.120 16 72995261 intron variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.870 0.857 7 2009 2019
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12446956
rs12446956 		1.000 0.040 16 73467637 intron variant T/C snv 9.8E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 1 2012 2012
dbSNP: rs879324
rs879324 		1.000 0.080 16 73034779 intron variant G/A snv 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs7193343
rs7193343 		0.882 0.120 16 72995261 intron variant T/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 2 2014 2016
dbSNP: rs16971436
rs16971436 		0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16971436
rs16971436 		0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16971436
rs16971436 		0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16971436
rs16971436 		0.851 0.080 16 72958864 missense variant T/C;G snv 1.2E-05; 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1858800
rs1858800 		1.000 0.120 16 72990377 intron variant C/T snv 0.28
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6499600
rs6499600 		1.000 0.080 16 72945475 intron variant C/T snv 0.51
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2229288
rs2229288 		16 72794405 missense variant C/A snv 2.5E-03 2.1E-03
CUI: C0029445
Disease: Bone necrosis
Bone necrosis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2106261
rs2106261 		0.763 0.160 16 73017721 intron variant C/G;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7189864
rs7189864 		1.000 0.040 16 73600037 intron variant G/C snv 0.43
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256 		0.851 0.120 16 72963084 intron variant C/T snv 0.94
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016