rs866922524, PTS

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.
6-pyruvoyl-tetrahydropterin synthase deficiency
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
38 1.000 0.120 11 112230681 splice donor variant -/GG delins 0.700 1.000 2 1987 2006