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: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
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: rs2070584
rs2070584 		0.790 0.200 X 47587120 intron variant T/G snv 0.44
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
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
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: 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: 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