rs121913659, NDUFV1

N. diseases: 2
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 I DEFICIENCY, NUCLEAR TYPE 4
CUI: C4748753
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
5 0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05 0.800 1.000 2 1999 2001
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05 0.700 1.000 2 1999 2015