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: rs1060503770
rs1060503770
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
Paragangliomas with Sensorineural Hearing Loss
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0