DisGeNET - a database of gene-disease associations

List of associated variants

Cyclic neutropenia, C0221023

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
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs137854450	ELANE	0.882	0.080	19	855574	stop gained	C/A;T	snv			4
rs57246956	ELANE	0.882	0.080	19	855649	missense variant	G/A;T	snv			3
rs879253882	ELANE	0.925	0.040	19	855799	splice region variant	G/A	snv			3
rs1131691520	ELANE	0.925	0.040	19	853395	missense variant	A/T	snv			2
rs137854445	ELANE	0.925	0.040	19	856019	missense variant	G/A;C	snv			2
rs137854447	ELANE	0.925	0.040	19	852990	missense variant	C/A;G;T	snv			2
rs137854448	ELANE	0.925	0.040	19	855613	missense variant	C/T	snv			2
rs1555710005	ELANE	0.925	0.040	19	855795	splice donor variant	G/A;C	snv			2
rs878855320	ELANE	0.925	0.040	19	852945	missense variant	C/A;T	snv			2
rs137854446	ELANE	1.000	0.040	19	855978	missense variant	G/T	snv			1
rs200993994	ELANE	1.000	0.040	19	855625	missense variant	G/A;T	snv	1.7E-04		1
rs730880095	ELANE	1.000	0.040	19	855955	splice region variant	C/G	snv			1
rs797045007	ELANE	1.000	0.040	19	852380	missense variant	G/C	snv			1