rs202247814, PCCA

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Propionic acidemia
CUI: C0268579
Disease: Propionic acidemia
124 1.000 0.080 13 100155090 missense variant G/A snv 0.820 1.000 6 1999 2014
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 0.080 13 100155090 missense variant G/A snv 0.010 1.000 1 2013 2013