rs765406631, 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 112233179 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 15 1994 2013