PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: 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: rs1131692232
rs1131692232 		0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0