DisGeNET - a database of gene-disease associations

List of shared variants

Severe congenital neutropenia, C1853118

Disease: Congenital neutropenia

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
rs879255237	VPS45	0.807	0.160	1	150077763	missense variant	C/A	snv			7
rs387906553	ELANE	0.827	0.120	19	853022	missense variant	G/A;C	snv	1.2E-05		6
rs1131691903	VPS45	0.882	0.160	1	150093558	missense variant	C/T	snv			4
rs121908165	HAX1	0.925	0.120	1	154273538	stop gained	C/G;T	snv	1.6E-05		4
rs132630274	WAS	0.882	0.120	X	48688331	missense variant	T/C	snv			4
rs137854450	ELANE	0.882	0.080	19	855574	stop gained	C/A;T	snv			4
rs28931611	ELANE	0.925	0.080	19	853019	missense variant	T/C	snv			3
rs782269909	VPS45	0.925	0.080	1	150081366	missense variant	G/A	snv	8.2E-06	7.0E-06	3
rs1423958279	LCN2	1.000	0.080	9	128150310	missense variant	A/G	snv			2
rs773967246	LCN2	1.000	0.080	9	128149560	missense variant	T/C	snv	8.0E-06		2