rs730880303, NAGS

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.
Hyperammonemia, type III
CUI: C0268543
Disease: Hyperammonemia, type III
18 1.000 0.120 17 44007628 frameshift variant -/T delins 0.700 0