rs141970897, CRAT

N. diseases: 7
Source: CURATED ×
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 Acetyltransferase Deficiency
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
2 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Mitochondrial respiratory chain defects
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
4 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
118 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
Seizures
CUI: C0036572
Disease: Seizures
417 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020