rs796052019, PCCA

N. diseases: 3
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 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018