rs552722349, NUBPL

N. diseases: 1
Source: UNIPROT ×
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 21
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
2 1.000 14 31787845 missense variant A/C;G snv 2.8E-05 0.800 1.000 2 2010 2013