DisGeNET - a database of gene-disease associations

List of associated variants

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES, C4540327

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
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs782736894	BPTF	0.827	0.280	17	67975841	missense variant	T/C;G	snv	4.0E-06	7.0E-06	16
rs1555652383	BPTF	0.807	0.160	17	67912720	frameshift variant	TG/-	delins			13
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs1555693714	BPTF	0.882	0.120	17	67975933	stop gained	A/T	snv			5