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: rs387907000
rs387907000
1.000 0.120 19 3590154 stop gained G/A snv
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0