rs34181110, MTHFD1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neural tube defect, folate-sensitive
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
2 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.700 1.000 3 1998 2006
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998