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: rs375628794
rs375628794
PCCA
1.000 0.080 13 100257643 missense variant T/A;C snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0