rs761665644, TYMP;SCO2

N. diseases: 4
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.
Extraocular Muscle Paresis
CUI: C0262918
Disease: Extraocular Muscle Paresis
2 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0