rs747260038, 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 112228626 frameshift variant TTTG/- delins 4.0E-06 7.2E-06 0.700 1.000 4 2001 2013