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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.030 1.000 3 2017 2018
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.030 1.000 3 2009 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2006
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 0.500 2 2005 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2012 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2012 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2014 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2004 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2010
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		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: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		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: 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