KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Disease: Congenital sensorineural hearing loss ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201650281
rs201650281 		0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs772410450
rs772410450 		0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0