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: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 0.936 156 1996 2019
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 0.762 21 2000 2018
dbSNP: rs1801133
rs1801133
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.060 1.000 6 2013 2018
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: rs1801131
rs1801131
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2018 2018
dbSNP: rs765625943
rs765625943
0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001