DisGeNET - a database of gene-disease associations

List of associated variants

Patent ductus arteriosus, C0013274

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	AF GENOME	Num. diseases
rs1557570794	ARID1A	0.742	0.120	1	26697152	frameshift variant	-/GCCGCCTCCCTCCTCCAGCGCC	delins			15
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs1565307564	TMEM258 ; MYRF	0.807	0.120	11	61783599	missense variant	A/G	snv			7
rs775394591	FREM2	0.851	0.120	13	38784727	inframe deletion	TCT/-	delins	2.8E-05		5
rs1567744830	HYDIN	0.925	0.120	16	70874437	stop gained	C/A	snv			3
rs587777710	GATA6	0.807	0.160	18	22171856	stop gained	G/T	snv			6
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv			33
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14
rs1057516044	ABCC9	0.851	0.240	12	21913005	missense variant	A/G	snv			9
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs121909222	PTEN	0.742	0.240	10	87933127	missense variant	A/G	snv			7
rs1232197674	TFAP2B	0.827	0.240	6	50838070	missense variant	C/T	snv	4.0E-06	1.4E-05	1
rs587779349	BRCA2	0.776	0.280	13	32380040	frameshift variant	C/-	delins			8
rs387906592	STAMBPL1 ; ACTA2	0.752	0.280	10	88941309	missense variant	C/T	snv			5
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	4
rs77010898	CFTR	0.742	0.280	7	117642566	stop gained	G/A;C	snv	4.6E-04; 4.0E-06		4
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs1563595095	CHD7	0.776	0.320	8	60781285	frameshift variant	AA/T	delins			10
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48