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: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1996 1996
dbSNP: rs2275565
rs2275565 		1 236885376 intron variant G/T snv 0.29
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 1 2013 2013
dbSNP: rs121913579
rs121913579 		1.000 0.080 1 236885202 missense variant C/G;T snv 4.0E-06; 4.0E-06
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 2 1996 1996
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: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		0.700 0
dbSNP: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs121913580
rs121913580 		1.000 0.080 1 236852578 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913582
rs121913582 		1.000 0.080 1 236835586 missense variant G/C snv 7.1E-06
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797044443
rs797044443 		1.000 0.080 1 236880799 inframe deletion AAT/- delins 1.4E-05
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797044444
rs797044444 		1.000 0.080 1 236861192 frameshift variant TC/- delins
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797044445
rs797044445 		1.000 0.080 1 236894530 frameshift variant -/A delins
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.867 15 2007 2020
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.867 15 2007 2020
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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.090 0.667 9 1997 2018
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.080 1.000 8 2005 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.080 1.000 8 1999 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.080 1.000 8 2001 2019
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
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 0.070 1.000 7 2007 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.060 0.833 6 2006 2017
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 0.667 6 2008 2018
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.060 0.667 6 2008 2018