Source: BEFREE

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: rs774738181
rs774738181
PCCA
1.000 0.080 13 100262814 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.010 1.000 1 2018 2018