rs104894275, PTS

N. diseases: 3
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 0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 0.800 1.000 18 1994 2017
Hyperphenylalaninaemia
CUI: C0751435
Disease: Hyperphenylalaninaemia
38 0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 0.010 1.000 1 1998 1998
Hyperphenylalaninemia, Non-Phenylketonuric
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
2 0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 0.010 1.000 1 2001 2001