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: rs202247815
rs202247815
PCCA
1.000 0.080 13 100209354 missense variant T/C snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2004