RDX, radixin, 5962

N. diseases: 80; N. variants: 9
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24 ×
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: rs121918379
rs121918379 		1.000 0.120 11 110231889 missense variant C/T snv 4.0E-06
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs121918380
rs121918380 		1.000 0.120 11 110263964 stop gained G/A snv
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0