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: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2017
dbSNP: rs201765376
rs201765376 		0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2002 2012
dbSNP: rs121913581
rs121913581 		1.000 0.080 1 236897020 stop gained G/T snv
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		0.010 1.000 1 2002 2002
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.833 12 2003 2014
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
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 0.818 11 2003 2014
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2003 2015
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 0.750 4 2003 2008
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.030 0.667 3 2003 2008
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2003 2010
dbSNP: rs150198234
rs150198234 		1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs751839046
rs751839046 		1 236859890 missense variant G/A snv 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 0.333 3 2004 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 0.333 3 2004 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 0.333 3 2004 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2004 2009
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2004 2009
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2004 2009
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2017
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0280803
Disease: Primary central nervous system lymphoma
Primary central nervous system lymphoma 		Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs201765376
rs201765376 		0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004