rs386833678, NICN1;AMT

N. diseases: 1
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.
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
182 1.000 0.120 3 49422214 frameshift variant C/- delins 0.700 0