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: 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
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
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: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C4552766
Disease: Miscarriage
Miscarriage
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs61886492
rs61886492
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000