SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
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: rs1556857481
rs1556857481 		1.000 0.160 X 47574544 frameshift variant -/G delins
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1142636
rs1142636 		1.000 0.040 X 47606962 missense variant A/C;G snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs12394306
rs12394306 		X 47576648 splice region variant A/C;T snv 4.3E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12394306
rs12394306 		X 47576648 splice region variant A/C;T snv 4.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12394306
rs12394306 		X 47576648 splice region variant A/C;T snv 4.3E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12394306
rs12394306 		X 47576648 splice region variant A/C;T snv 4.3E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.020 1.000 2 2017 2020
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1024446168
rs1024446168 		1.000 0.040 X 47583421 synonymous variant C/A snv 1.7E-05
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs397514680
rs397514680 		0.925 0.160 X 47574336 missense variant C/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs5906435
rs5906435 		1.000 0.040 X 47589011 intron variant C/G;T snv
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397514680
rs397514680 		0.925 0.160 X 47574336 missense variant C/G;T snv
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs6520278
rs6520278 		1.000 0.120 X 47588525 intron variant C/T snv 0.35
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs137852560
rs137852560 		1.000 0.160 X 47576222 stop gained C/T snv
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.020 1.000 2 2015 2018
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.020 1.000 2 2015 2018
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2013 2013