SHMT1, serine hydroxymethyltransferase 1, 6470

N. diseases: 106; N. variants: 12
Disease: Neural Tube Defects ×
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: rs1979277
rs1979277 		0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2001 2017