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: 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: 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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		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: 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: 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: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
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: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
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: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
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: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
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: 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