DisGeNET - a database of gene-disease associations

List of associated variants

Congenital heart disease, C0152021

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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1904589	NODAL	1.000	0.040	10	70435683	missense variant	T/C	snv	0.62	0.56	2
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs199715380	CFC1			2	130597533	missense variant	C/T	snv			2
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs202002859	TFAP2A-AS2 ; TFAP2A			6	10404649	missense variant	T/C;G	snv	1.6E-05	2.1E-05	1
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs2277923	NKX2-5	0.752	0.160	5	173235021	synonymous variant	T/C	snv	0.41	0.44	13
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	17
rs368418329	GATA4	0.925	0.120	8	11708019	5 prime UTR variant	G/T	snv		5.9E-03	3
rs372187772	PRODH ; DGCR6	1.000	0.080	22	18913477	stop gained	G/A;C	snv	9.8E-06; 4.9E-06		2
rs3729753	NKX2-5	1.000	0.040	5	173232938	synonymous variant	C/G	snv	9.9E-03	2.2E-03	3
rs3729851	GATA4			8	11755333	intron variant	G/A	snv		9.3E-02	1
rs3735819	GATA4			8	11748803	intron variant	T/C	snv		0.80	1
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	7
rs387906776	NKX2-5	1.000	0.080	5	173232775	missense variant	G/A;C;T	snv	4.2E-06; 8.4E-06		3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs398124546	NPHP3-ACAD11 ; NPHP3			3	132692760	missense variant	A/G	snv	2.0E-05		1
rs3999950	TBX20			7	35212128	intron variant	C/T	snv			1
rs41291957	CARMN ; MIR145 ; MIR143	0.882	0.200	5	149428827	intron variant	G/A	snv		0.12	7