rs1554887213, TWNK

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.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
18 1.000 0.200 10 100989774 splice acceptor variant G/T snv 0.700 1.000 12 2001 2011
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 0.200 10 100989774 splice acceptor variant G/T snv 0.700 1.000 1 2017 2017