rs752513525, NDUFA13

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.
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
CUI: C4748827
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
1 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 0