rs387907087, FOXRED1

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 I DEFICIENCY, NUCLEAR TYPE 19
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
3 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.800 1.000 3 2010 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 4 2010 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2010 2010