rs515726199, RRM2B

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 Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
3 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 0