DisGeNET - a database of gene-disease associations

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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
rs10503425	GATA4			8	11748855	intron variant	G/A;C	snv			1
rs113049875	GATA4			8	11755236	intron variant	G/A;C;T	snv			1
rs116052854	GATA4			8	11757212	intron variant	C/A;T	snv			1
rs12156163	GATA4			8	11757260	intron variant	C/G;T	snv			1
rs12458	C8orf49 ; GATA4			8	11759731	3 prime UTR variant	A/T	snv		0.35	1
rs1554498312	GATA4			8	11754991	intron variant	T/C	snv			1
rs1554498708	GATA4			8	11756909	non coding transcript exon variant	G/A	snv			1
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
rs3999950	TBX20			7	35212128	intron variant	C/T	snv			1
rs549543886	C8orf49 ; GATA4			8	11759643	3 prime UTR variant	T/C	snv		2.2E-03	1
rs745379	GATA4			8	11758186	intron variant	A/G	snv		0.39	1
rs804290	GATA4 ; C8orf49			8	11759327	3 prime UTR variant	G/A;C	snv			1
rs864321645	NKX2-5			5	173233210	splice acceptor variant	C/A	snv			1
rs864321648	NKX2-5			5	173233153	missense variant	C/T	snv			1
rs864321649	NKX2-5			5	173233101	missense variant	G/A;T	snv			1
rs864321698	GATA4			8	11708335	missense variant	C/A;T	snv			1
rs864321700	GATA4			8	11708695	missense variant	A/T	snv			1
rs864321701	GATA4			8	11708709	missense variant	A/T	snv			1
rs864321702	GATA4			8	11748984	missense variant	T/A	snv			1
rs864321703	GATA4			8	11708339	missense variant	C/A	snv			1
rs864321704	GATA4			8	11758409	synonymous variant	C/T	snv			1
rs864321705	GATA4			8	11755135	splice donor variant	T/G	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs751426149	MIR208A ; MYH6			14	23389617	stop gained	G/A;T	snv	4.0E-06; 4.0E-06		1