DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 ×
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: rs794729665
rs794729665 		0.925 0.120 6 24178385 missense variant T/G snv
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs904944428
rs904944428 		0.925 0.120 6 24301743 frameshift variant T/-;TT delins
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016