DisGeNET - a database of gene-disease associations

Source: INFERRED ×

Results per page

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
rs121965033	IDUA	0.925	0.120	4	1002333	missense variant	T/C;G	snv	4.0E-06		2
rs864321698	GATA4			8	11708335	missense variant	C/A;T	snv			1
rs864321699	GATA4	1.000	0.080	8	11708337	missense variant	G/A;C	snv			1
rs864321703	GATA4			8	11708339	missense variant	C/A	snv			1
rs864321700	GATA4			8	11708695	missense variant	A/T	snv			1
rs864321701	GATA4			8	11708709	missense variant	A/T	snv			1
rs387906769	GATA4	0.807	0.080	8	11708799	missense variant	C/T	snv	7.3E-05	4.2E-05	3
rs3735819	GATA4			8	11748803	intron variant	T/C	snv		0.80	1
rs10503425	GATA4			8	11748855	intron variant	G/A;C	snv			1
rs864321702	GATA4			8	11748984	missense variant	T/A	snv			1
rs147860174	GATA4			8	11750261	intron variant	G/A	snv	5.3E-03	5.4E-03	1
rs1554498312	GATA4			8	11754991	intron variant	T/C	snv			1
rs864321705	GATA4			8	11755135	splice donor variant	T/G	snv			1
rs804280	GATA4	0.882	0.120	8	11755189	intron variant	C/A;G	snv			1
rs113049875	GATA4			8	11755236	intron variant	G/A;C;T	snv			1
rs3729851	GATA4			8	11755333	intron variant	G/A	snv		9.3E-02	1
rs1554498708	GATA4			8	11756909	non coding transcript exon variant	G/A	snv			1
rs116052854	GATA4			8	11757212	intron variant	C/A;T	snv			1
rs12156163	GATA4			8	11757260	intron variant	C/G;T	snv			1
rs745379	GATA4			8	11758186	intron variant	A/G	snv		0.39	1
rs864321704	GATA4			8	11758409	synonymous variant	C/T	snv			1
rs804290	GATA4 ; C8orf49			8	11759327	3 prime UTR variant	G/A;C	snv			1
rs549543886	C8orf49 ; GATA4			8	11759643	3 prime UTR variant	T/C	snv		2.2E-03	1
rs12458	C8orf49 ; GATA4			8	11759731	3 prime UTR variant	A/T	snv		0.35	1
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6