rs28931613, TYMP

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 50529579 missense variant C/T snv 0.800 1.000 2 1999 2002