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: rs148966811
rs148966811 		11 49182310 intron variant C/A snv 4.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs150151341
rs150151341 		11 49146109 3 prime UTR variant T/C snv 1.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs185558485
rs185558485 		11 49203333 intron variant G/A snv 7.8E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs202676
rs202676 		0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
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: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2015
dbSNP: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2015
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: 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: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2008 2015
dbSNP: rs368939818
rs368939818 		0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2008 2015
dbSNP: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2008 2015
dbSNP: rs755001634
rs755001634 		0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2008 2015
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