rs28937887, MRPL43;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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 10 100989211 missense variant G/A;T snv 0.700 1.000 1 2017 2017
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
2 1.000 10 100989211 missense variant G/A;T snv 0.700 0