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: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2008 2008
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
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: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014