FOLH1, folate hydrolase 1, 2346

N. diseases: 311; N. variants: 20
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: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2004 2010
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1169089134
rs1169089134 		0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1194022307
rs1194022307 		0.851 0.120 11 49146838 missense variant G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1194022307
rs1194022307 		0.851 0.120 11 49146838 missense variant G/A snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1194022307
rs1194022307 		0.851 0.120 11 49146838 missense variant G/A snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1194022307
rs1194022307 		0.851 0.120 11 49146838 missense variant G/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2003 2010
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011