rs1060499535, TYMP;SCO2

N. diseases: 1
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 DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 1.000 22 50526317 frameshift variant C/- delins 0.700 1.000 1 2009 2009