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: rs397514679
rs397514679 		0.790 0.200 X 47574321 stop gained G/A snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		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: C0454651
Disease: Specific language impairment
Specific language impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs762952014
rs762952014 		1.000 0.080 X 47576535 missense variant G/A snv 5.4E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 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: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 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: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2013 2013