DisGeNET - a database of gene-disease associations

List of associated variants

Severe congenital neutropenia, C1853118

Source: ALL

Results per page

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
rs137854450	ELANE	0.882	0.080	19	855574	stop gained	C/A;T	snv			4
rs121908165	HAX1	0.925	0.120	1	154273538	stop gained	C/G;T	snv	1.6E-05		4
rs1131691903	VPS45	0.882	0.160	1	150093558	missense variant	C/T	snv			4
rs132630274	WAS	0.882	0.120	X	48688331	missense variant	T/C	snv			4
rs28931611	ELANE	0.925	0.080	19	853019	missense variant	T/C	snv			3
rs74315322	HAX1	1.000	0.040	1	154275165	stop gained	C/T	snv	3.6E-05		3
rs782269909	VPS45	0.925	0.080	1	150081366	missense variant	G/A	snv	8.2E-06	7.0E-06	3
rs606231473	CSF3R	1.000		1	36472313	missense variant	G/A	snv			2
rs587777727	JAGN1	1.000		3	9890725	start lost	G/A	snv	3.8E-05	2.8E-05	2
rs587777728	JAGN1	1.000		3	9892955	missense variant	C/T	snv			2
rs587777729	JAGN1	1.000		3	9890785	missense variant	G/T	snv			2
rs587777730	JAGN1	1.000		3	9893310	missense variant	A/G	snv	8.0E-06	1.4E-05	2
rs587777731	JAGN1	1.000		3	9890752	inframe deletion	CCGACGGCA/-	delins			2
rs777966677	JAGN1	1.000		3	9890781	missense variant	G/A	snv		7.0E-06	2
rs786205704	JAGN1	1.000		3	9890762	missense variant	G/A;T	snv			2
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
rs1398108109	HAX1			1	154273840	stop gained	C/G	snv	4.0E-06		1
rs141970914	HAX1			1	154274959	missense variant	G/A	snv	3.3E-04	1.5E-04	1
rs179363870	HAX1			1	154273878	missense variant	T/C	snv			1
rs179363871	HAX1			1	154273846	missense variant	T/G	snv			1
rs764082747	HAX1			1	154273373	frameshift variant	G/-	del	1.9E-04; 4.0E-06	2.6E-04	1
rs770288337	HAX1			1	154273881	frameshift variant	G/-;GG	delins			1