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: rs1023746725
rs1023746725
1.000 0.120 10 26024020 splice acceptor variant A/C;G snv 4.0E-06; 4.0E-06 2.1E-05
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0