DisGeNET - a database of gene-disease associations

List of shared variants

DEAFNESS, AUTOSOMAL DOMINANT 65, C3892048

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1

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
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs1057524191	TBC1D24	0.925	0.040	16	2496269	stop gained	C/T	snv			3
rs1555501140	TBC1D24	0.925	0.040	16	2496319	frameshift variant	C/-	delins			3
rs1567413218	TBC1D24	0.925	0.040	16	2498385	stop gained	C/G	snv			3
rs747538224	TBC1D24	0.925	0.040	16	2496993	missense variant	C/G	snv	1.8E-04	2.1E-05	3