SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Progressive sensorineural hearing impairment ×
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: rs1569308571
rs1569308571 		1.000 0.120 X 21743794 frameshift variant -/T delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0