ESPN, espin, 83715

N. diseases: 28; N. variants: 7
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: rs754472294
rs754472294
1.000 1 6460077 frameshift variant C/- del 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0