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: 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: 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
dbSNP: rs4898
rs4898 		0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		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: 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019