DisGeNET - a database of gene-disease associations

List of associated variants

Patent ductus arteriosus, C0013274

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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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv			33
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		21
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs1557570794	ARID1A	0.742	0.120	1	26697152	frameshift variant	-/GCCGCCTCCCTCCTCCAGCGCC	delins			15
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs1563595095	CHD7	0.776	0.320	8	60781285	frameshift variant	AA/T	delins			10
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
rs587779349	BRCA2	0.776	0.280	13	32380040	frameshift variant	C/-	delins			8
rs121909222	PTEN	0.742	0.240	10	87933127	missense variant	A/G	snv			7
rs1565307564	TMEM258 ; MYRF	0.807	0.120	11	61783599	missense variant	A/G	snv			7