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: 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: 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
dbSNP: rs1206846668
rs1206846668 		0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular 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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1331861708
rs1331861708 		1.000 0.040 11 49186684 missense variant A/G snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1386661424
rs1386661424 		1.000 0.080 11 49164726 missense variant C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1486559930
rs1486559930 		11 49175866 missense variant A/G snv 4.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0002902
Disease: Anencephaly
Anencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C4551722
Disease: Encephalocele
Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202680
rs202680 		11 49200333 synonymous variant T/A snv 0.31 0.37
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2014 2014