rs895293055, MED20

N. diseases: 5
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.
Basal ganglion degeneration
CUI: C0854279
Disease: Basal ganglion degeneration
2 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
Childhood Onset Dystonias
CUI: C0752202
Disease: Childhood Onset Dystonias
8 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015