DisGeNET - a database of gene-disease associations

List of associated variants

Atrial Septal Defects, C0018817

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
rs56208331	GATA4	0.925	0.080	8	11758419	missense variant	G/A;T	snv	2.0E-03		4
rs387906772	GATA4	1.000	0.080	8	11755064	missense variant	A/G;T	snv			3
rs4841587	GATA4	1.000	0.080	8	11756666	non coding transcript exon variant	G/T	snv		0.37	3
rs4841588	GATA4	1.000	0.080	8	11756716	non coding transcript exon variant	G/T	snv		0.19	3
rs387906771	GATA4	1.000	0.080	8	11750166	missense variant	C/G;T	snv			2
rs759067821	GATA4	1.000	0.080	8	11758294	missense variant	C/T	snv	2.8E-05	1.4E-05	2
rs387906816	GATA6	0.882	0.080	18	22171695	missense variant	G/A	snv	8.4E-04	1.5E-04	4
rs1555628863	GATA6	0.925	0.080	18	22172215	frameshift variant	G/-	delins			3
rs779545541	GPHN	0.882	0.120	14	66965293	missense variant	C/T	snv	4.0E-06		5
rs1556009247	HDAC8	0.882		X	72490973	missense variant	A/C;T	snv			7
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1564062144	HNRNPK	1.000		9	83972190	splice acceptor variant	C/T	snv			7
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1340513	KDM4C	0.882	0.120	9	6977633	intron variant	G/A	snv		0.75	4
rs121913528	KRAS	0.851	0.160	12	25227349	missense variant	C/A;T	snv			12
rs753669213	LBX2			2	74498109	missense variant	T/C	snv	1.7E-04	1.8E-04	1
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs398123278	MMUT	0.925	0.120	6	49459376	stop gained	G/A	snv	1.6E-05	2.8E-05	4
rs527656756	MTA3 ; HAAO	0.716	0.400	2	42770143	frameshift variant	-/A	delins	1.7E-05	1.4E-05	21
rs746503158	MTG1	1.000	0.040	10	133420125	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs199865688	MYBPC3	0.925	0.080	11	47337496	missense variant	C/T	snv	1.5E-03	1.2E-03	4