rs137854432, TK2

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 DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
28 0.925 0.040 16 66541951 missense variant G/C snv 0.800 1.000 5 2001 2015
Motor Neuron Disease, Lower
CUI: C0270764
Disease: Motor Neuron Disease, Lower
7 0.925 0.040 16 66541951 missense variant G/C snv 0.010 1.000 1 2002 2002