rs1040441824, PTS

N. diseases: 4
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 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.010 1.000 1 1997 1997
Liver neoplasms
CUI: C0023903
Disease: Liver neoplasms
7 0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.010 1.000 1 1997 1997
Transient hyperphenylalaninemia
CUI: C0268464
Disease: Transient hyperphenylalaninemia
1 0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.010 1.000 1 1997 1997