DisGeNET - a database of gene-disease associations

List of associated variants

Ventricular Septal Defects, C0018818

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
rs1701	BAHCC1 ; MIR4740			17	81402198	non coding transcript exon variant	C/A;G;T	snv			1
rs1383180	CRMP1 ; EVC			4	5783715	missense variant	G/A;T	snv	0.35; 2.4E-05		1
rs2164331	DARS1			2	135910326	intron variant	C/T	snv		0.18	1
rs309143	DARS1			2	135956608	intron variant	A/G	snv		0.19	1
rs6738266	DARS1 ; DARS-AS1			2	135985602	5 prime UTR variant	C/T	snv	2.8E-02	2.8E-02	1
rs755273705	EVC			4	5729349	missense variant	C/G;T	snv	2.0E-05		1
rs540578824	GATA4			8	11708800	missense variant	C/G;T	snv		2.1E-05	1
rs756237060	HAND1			5	154477792	missense variant	C/T	snv	4.8E-06		1
rs3762977	ISL1 ; LOC642366			5	51383180	non coding transcript exon variant	A/G	snv		0.15	1
rs11665469	NFATC1			18	79454468	intron variant	C/T	snv		0.30	1
rs754505	NFATC1 ; LOC101927897			18	79466368	intron variant	G/A	snv		5.6E-02	1
rs703752	NKX2-5			5	173232508	3 prime UTR variant	C/A;G	snv			1
rs866024579	NKX2-5			5	173232819	missense variant	C/T	snv			1
rs6563	NOTCH1			9	136494732	3 prime UTR variant	A/G	snv		0.51	1
rs1357911800	SALL4			20	51790094	missense variant	T/A	snv			1
rs151297824	SALL4			20	51791897	missense variant	G/A	snv	2.8E-05	2.1E-05	1
rs77693245	TBX18			6	84765153	upstream gene variant	G/A;T	snv			1
rs11067075	TBX5			12	114361761	intron variant	C/A	snv		1.2E-03	1
rs1185861796	GATA4	1.000	0.080	8	11758339	missense variant	C/A	snv	8.0E-06	7.0E-06	2
rs146017816	GATA4	1.000		8	11758471	missense variant	C/G;T	snv	7.2E-05; 1.6E-05		2
rs368489876	GATA4	1.000		8	11757012	missense variant	G/A	snv	4.4E-05	2.1E-05	2
rs387906770	GATA4	1.000		8	11708439	splice acceptor variant	C/A;T	snv			2
rs55633527	GATA4	1.000	0.080	8	11758378	missense variant	C/T	snv	3.6E-03	3.2E-03	2
rs1555896779	GATA5	1.000		20	62473507	missense variant	G/C	snv			2
rs7207109	HOXB1	1.000	0.080	17	48530455	synonymous variant	C/T	snv	0.18	0.18	2