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: rs750840362
rs750840362
1.000 0.080 13 100273236 missense variant C/G snv 6.8E-05 4.9E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.010 1.000 1 2004 2004