DisGeNET - a database of gene-disease associations

List of shared variants

DEAFNESS, AUTOSOMAL DOMINANT 65, C3892048

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs376712059	TBC1D24	0.827	0.280	16	2496605	stop gained	G/A;C;T	snv	6.9E-05; 8.1E-06; 4.1E-06		5