MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Spina Bifida ×
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: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.938 16 1995 2014
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2000 2003
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs746937239
rs746937239 		1.000 0.080 1 11801165 synonymous variant C/A snv 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013