rs80356791, CPT1A

N. diseases: 1
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.
Carnitine palmitoyl transferase 1A deficiency
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
55 1.000 0.080 11 68775398 missense variant T/C snv 4.0E-06 0.700 1.000 8 1998 2004