MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
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: rs1057519359
rs1057519359 		1.000 1 11802880 splice donor variant C/T snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 2 2016 2016
dbSNP: rs1057519360
rs1057519360 		1.000 1 11801220 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 2 2004 2016
dbSNP: rs1057519361
rs1057519361 		1.000 1 11796382 missense variant G/T snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 2 2011 2016
dbSNP: rs1057519362
rs1057519362 		1.000 1 11796324 frameshift variant C/- delins
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 2 2016 2016
dbSNP: rs1057519363
rs1057519363 		1.000 1 11792317 frameshift variant C/- del
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 2 2011 2016
dbSNP: rs114673809
rs114673809 		0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs114673809
rs114673809 		0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs114673809
rs114673809 		0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1182635980
rs1182635980 		1.000 1 11800275 missense variant C/T snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1999 2000
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.020 0.500 2 1996 2000
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		0.010 1.000 1 2002 2002
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 1996 1996
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1194897557
rs1194897557 		0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1199277582
rs1199277582 		1.000 0.080 1 11801296 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.040 1.000 4 2008 2017
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2014 2015
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244 		0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012