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: 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: 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: 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: rs1556860663
rs1556860663 		1.000 0.160 X 47605381 splice acceptor variant T/A 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: rs200533370
rs200533370 		0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02
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: 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: 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: rs41298474
rs41298474 		1.000 0.160 X 47575136 missense variant G/A snv 1.2E-03 3.8E-04
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: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.030 1.000 3 2011 2015
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: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2019
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: 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: 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: rs200533370
rs200533370 		0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200533370
rs200533370 		0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013