STX1A, syntaxin 1A, 6804

N. diseases: 74; N. variants: 9
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: rs2228607
rs2228607 		0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2017 2018
dbSNP: rs4363087
rs4363087 		0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 1.000 2 2009 2012
dbSNP: rs875342
rs875342 		1.000 0.040 7 73712768 intron variant G/A snv 2.1E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2015 2019
dbSNP: rs941298
rs941298 		1.000 0.040 7 73710933 intron variant G/A snv 0.28
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 1.000 2 2009 2010
dbSNP: rs941298
rs941298 		1.000 0.040 7 73710933 intron variant G/A snv 0.28
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.020 1.000 2 2010 2012
dbSNP: rs1569061
rs1569061 		1.000 0.080 7 73700151 3 prime UTR variant C/T snv 0.10
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2228607
rs2228607 		0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2293485
rs2293485 		1.000 0.080 7 73708593 synonymous variant A/G snv
CUI: C0015458
Disease: Facial Hemiatrophy
Facial Hemiatrophy 		Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3793243
rs3793243 		0.925 0.080 7 73707017 intron variant A/G snv 0.55
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3793243
rs3793243 		0.925 0.080 7 73707017 intron variant A/G snv 0.55
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4363087
rs4363087 		0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4363087
rs4363087 		0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0015458
Disease: Facial Hemiatrophy
Facial Hemiatrophy 		Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806 		0.776 0.200 7 73702147 intron variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs6951030
rs6951030 		1.000 0.040 7 73718911 intron variant T/G snv 0.21
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6951030
rs6951030 		1.000 0.040 7 73718911 intron variant T/G snv 0.21
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2010 2010