DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs13056815	LIMK2			22	31272264	intron variant	G/A;C	snv			2
rs4821544	NCF4-AS1 ; NCF4	0.925	0.040	22	36862461	intron variant	T/A;C	snv			4
rs5758297	ZC3H7B			22	41324693	intron variant	A/G	snv		0.41	2
rs7288670	GGT5			22	24225858	intron variant	A/C;G	snv			4
rs743002				22	41008935	intergenic variant	T/C	snv		3.9E-02	2
rs2834081	LINC00945			21	33060486	intron variant	A/G;T	snv			2
rs28567906	RUNX1			21	34911514	intron variant	A/G	snv		0.16	2
rs56117721	RUNX1			21	35026289	intron variant	T/A	snv		5.3E-02	2
rs58030288	ERG			21	38482555	intron variant	C/A;T	snv			2
rs8133974	RUNX1			21	35078544	intron variant	C/T	snv		0.11	3
rs9977672		0.827	0.120	21	39091357	intergenic variant	G/A	snv		0.22	10
rs9979383	RUNX1	0.925	0.200	21	35343463	intron variant	C/G;T	snv			5
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	17
rs6021268	NFATC2			20	51524602	intron variant	T/C	snv		5.8E-02	2
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs10409243	S1PR2 ; DNMT1			19	10222312	3 prime UTR variant	C/A;G;T	snv			6
rs10410864				19	39711776	downstream gene variant	T/C	snv		0.68	2
rs11428934	CA11 ; SEC1P			19	48640988	intron variant	-/G	ins			4
rs11669910	EXOC3L2 ; MARK4			19	45238075	intron variant	A/T	snv		0.23	2
rs1968252	LOC105372263			19	7782850	upstream gene variant	G/A;T	snv			5
rs36084354	ARHGAP45			19	1079960	missense variant	G/A	snv	5.7E-02	5.9E-02	3
rs3810328	SYMPK ; FOXA3			19	45864964	intron variant	G/T	snv		1.0E-01	2
rs410867				19	16316300	intron variant	A/G	snv		0.32	2
rs4147915	ABCA7			19	1049306	synonymous variant	C/A;G	snv	0.18; 4.0E-06		3
rs4645881	BAX			19	48955005	non coding transcript exon variant	C/G;T	snv	0.83		2