rs4816, PCMT1

N. diseases: 2
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.
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.020 1.000 2 2006 2012
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2006 2006