DisGeNET - a database of gene-disease associations

List of associated variants

HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME, C4310618

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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			6
rs1057519522	EBF3	1.000		10	129877788	stop gained	G/A	snv			2
rs1057519518	EBF3	1.000		10	129963462	missense variant	T/C	snv			1
rs1057519519	EBF3	1.000		10	129958997	missense variant	T/C	snv			1
rs1057519520	EBF3	1.000		10	129877825	missense variant	C/A	snv			1
rs1554904330	EBF3	1.000		10	129877811	missense variant	C/T	snv			1
rs1554934855	EBF3	1.000		10	129957258	missense variant	C/T	snv			1
rs1564927062	EBF3	1.000		10	129958957	missense variant	CA/AG	mnv			1
rs779003155	EBF3	1.000		10	129877779	missense variant	G/A;T	snv	4.0E-06		1
rs869312668	EBF3	1.000		10	129957282	missense variant	G/A	snv			1