Source: UNIPROT

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: rs104893948
rs104893948
ARG1 ; MED23
6 131583392 missense variant G/A;C snv 2.0E-05; 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 1.000 4 1992 2016