rs1057517473, CPT2

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.
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
54 0.882 0.200 1 53211321 splice donor variant T/G snv 0.700 0
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
36 0.882 0.200 1 53211321 splice donor variant T/G snv 0.700 0
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
24 0.882 0.200 1 53211321 splice donor variant T/G snv 0.700 0