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: rs137853061
rs137853061 		1.000 0.200 5 7892815 missense variant G/A snv
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 1998 1999
dbSNP: rs761061866
rs761061866 		1.000 0.200 5 7873409 missense variant G/A;T snv 8.0E-06
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1998 1999
dbSNP: rs768980918
rs768980918 		1.000 0.200 5 7896862 splice region variant GAGA/- delins 5.6E-05
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1998 2015
dbSNP: rs7721678
rs7721678 		5 7855636 intron variant T/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs137853062
rs137853062 		1.000 0.200 5 7891405 missense variant C/T snv 7.2E-06
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554006017
rs1554006017 		1.000 0.200 5 7892735 stop gained T/G snv
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.895 19 2000 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
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 0.100 0.889 18 2000 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.846 13 1999 2019
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.100 0.900 10 2003 2018
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.060 0.667 6 2014 2019
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.050 1.000 5 2003 2015
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.750 4 2002 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.040 1.000 4 2006 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.040 1.000 4 2007 2016
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2005 2019
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2005 2019
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2005 2019
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2011 2018
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2003 2012
dbSNP: rs1801394
rs1801394 		0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2014 2018