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: rs141371306
rs141371306
PCCA
1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2014