rs772410450, KARS1

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.
Congenital sensorineural hearing loss
17 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
Optic Neuropathy
CUI: C3887709
Disease: Optic Neuropathy
8 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0