DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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	Num. diseases
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv		24
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv		15
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del		9
rs875989802	DDX3X	0.882	0.080	X	41344278	missense variant	G/A	snv		6
rs1057519430	DDX3X	0.925		X	41346946	missense variant	C/T	snv		5
rs752738546	DDX3X	1.000		X	41343802	stop gained	G/A;T	snv	5.6E-06	4
rs797045025	DDX3X	0.925		X	41344351	missense variant	G/A	snv		3
rs1569240005	DDX3X	1.000		X	41346352	missense variant	G/C	snv		2
rs869312692	DDX3X	1.000		X	41343291	stop gained	C/T	snv		2
rs1057518707	DDX3X	1.000		X	41345206	missense variant	G/A	snv		1
rs1057519431	DDX3X	1.000		X	41341521	frameshift variant	-/A	delins		1
rs1057519446	DDX3X	1.000		X	41342572	missense variant	G/A;C;T	snv	5.5E-06; 5.5E-06	1
rs1267519974	DDX3X	1.000		X	41344084	missense variant	C/T	snv		1
rs1555951993	DDX3X	1.000		X	41339045	missense variant	A/G	snv		1
rs1555953398	DDX3X	1.000		X	41344030	frameshift variant	-/A	delins		1
rs1555953819	DDX3X	1.000		X	41345252	frameshift variant	-/C	delins		1
rs1555954105	DDX3X	1.000		X	41346342	missense variant	C/G	snv		1
rs1555954154	DDX3X	1.000		X	41346399	missense variant	G/A	snv		1
rs1569234653	DDX3X	1.000		X	41339068	stop gained	C/T	snv		1
rs796052231	DDX3X	1.000		X	41345280	missense variant	C/T	snv		1
rs796052235	DDX3X	1.000		X	41346376	missense variant	G/A	snv		1
rs797045024	DDX3X	1.000		X	41346527	missense variant	T/C	snv		1
rs797045026	DDX3X	1.000		X	41345238	missense variant	C/T	snv		1
rs869320681	DDX3X	1.000		X	41344247	stop gained	C/A	snv		1
rs886041705	DDX3X	1.000		X	41347349	stop gained	C/T	snv		1