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: rs768434408
rs768434408 		1.000 1 11790682 stop lost A/G 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 0
dbSNP: rs769953411
rs769953411 		1.000 1 11794732 missense variant C/T snv 2.0E-05
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: rs777661576
rs777661576 		1.000 1 11790916 intron variant C/T snv 4.0E-06; 8.0E-06 1.4E-05
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: rs779993607
rs779993607 		1.000 1 11794826 missense variant G/A snv 8.0E-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 0
dbSNP: rs780014899
rs780014899 		1.000 1 11794540 splice acceptor variant T/- del 8.0E-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 0
dbSNP: rs786204010
rs786204010 		1.000 1 11801333 inframe insertion -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG 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 0
dbSNP: rs786204016
rs786204016 		1.000 1 11796307 inframe deletion TGA/- 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 0
dbSNP: rs786204020
rs786204020 		1.000 1 11796205 splice donor variant C/A;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: rs786204027
rs786204027 		1.000 1 11793905 splice donor variant A/C;G snv 4.1E-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 0
dbSNP: rs786204030
rs786204030 		0.882 0.080 1 11791276 stop gained C/T snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs786204030
rs786204030 		0.882 0.080 1 11791276 stop gained 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: rs786204030
rs786204030 		0.882 0.080 1 11791276 stop gained C/T snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs786204035
rs786204035 		1.000 1 11790853 stop gained CA/AC mnv
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: rs983672500
rs983672500 		1.000 1 11790895 missense variant C/T snv 8.0E-06 1.4E-05
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: rs986604359
rs986604359 		1.000 1 11802963 stop gained G/A 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: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.020 < 0.001 2 2011 2015
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.020 < 0.001 2 2014 2016
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.020 < 0.001 2 2011 2015
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: rs12121543
rs12121543 		0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 < 0.001 1 2020 2020
dbSNP: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 < 0.001 1 2012 2012