rs138490803, COQ7

N. diseases: 3
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 mutation
CUI: C0948444
Disease: Mitochondrial DNA mutation
7 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017