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: 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: 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: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs10380
rs10380 		0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1211098985
rs1211098985 		1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1211098985
rs1211098985 		1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1211098985
rs1211098985 		1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
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 0.010 1.000 1 2013 2013
dbSNP: rs1532268
rs1532268 		0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs161870
rs161870 		0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs161870
rs161870 		0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		Male Urogenital Diseases 0.010 1.000 1 2019 2019