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: 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: rs201765376
rs201765376 		0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
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: 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: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2008 2012
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.050 0.600 5 1999 2013
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.050 0.800 5 1998 2013
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2006 2008
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs201765376
rs201765376 		0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2013
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0677949
Disease: Stage III Colorectal Cancer
Stage III Colorectal Cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008