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: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0043144
Disease: Wheezing
Wheezing 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1255283120
rs1255283120 		0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2020
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2020
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2020
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2020
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.700 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		Nutritional and Metabolic Diseases 0.080 1.000 8 1997 2018
dbSNP: rs1801131
rs1801131 		0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.020 0.500 2 2013 2019
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight 		0.010 1.000 1 2004 2004
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2002 2012
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.100 0.903 31 1997 2015
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.020 1.000 2 2003 2013
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion 		Eye Diseases; Cardiovascular Diseases 0.020 1.000 2 2002 2010