Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.700 0
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 1997 1997