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: 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: C0454651
Disease: Specific language impairment
Specific language impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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: 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: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2019
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
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: 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: 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: 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: C0023895
Disease: Liver diseases
Liver diseases 		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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; 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: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 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: C1719672
Disease: Severe Sepsis
Severe Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 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: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: 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