rs1555745989, ATP5F1D

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.
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
2 0.925 0.040 19 1244118 missense variant T/G snv 0.800 1.000 1 2018 2018
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018
Acute encephalopathy
CUI: C1306587
Disease: Acute encephalopathy
3 0.925 0.040 19 1244118 missense variant T/G snv 0.010 1.000 1 2018 2018