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
rs113525195	PSMB5			14	23030112	intron variant	C/A;T	snv			2
rs113700287	THRB			3	24293020	intron variant	-/GTT	delins			4
rs11771301	WIPI2			7	5195031	intron variant	C/G;T	snv			2
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			10
rs159058	NOL4L ; LOC101929698			20	32520305	intron variant	A/C;T	snv			4
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			11
rs4832312	RMND5A			2	86762839	intron variant	G/A;C	snv			3
rs61823972	TMCC2			1	205232197	intron variant	A/C;T	snv			4
rs6600233	NPRL3			16	93505	intron variant	C/G;T	snv			2
rs754205	IRS2			13	109759295	intron variant	A/C;G	snv			4
rs875741				5	173860848	intergenic variant	G/A;C	snv			3
rs8887	PLIN4 ; HDGFL2	1.000	0.080	19	4502189	3 prime UTR variant	T/C;G	snv	0.51; 1.8E-05		6
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			6
rs146771786	GMPR			6	16285830	missense variant	C/A	snv	1.3E-03	1.3E-03	2
rs532398216				16	182398	downstream gene variant	TGAG/-	delins		2.0E-03	5
rs140446749	SPTA1			1	158668470	intron variant	G/A	snv		8.0E-03	2
rs113542380	THADA			2	43237679	intron variant	G/A	snv		4.7E-02	5
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs35788208				5	154654616	intergenic variant	C/T	snv		7.4E-02	2
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs113809617	TMEM203 ; NDOR1			9	137205865	missense variant	C/G	snv	0.13	0.12	5
rs35259020				9	134085798	intergenic variant	CT/-	delins		0.18	3
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	6
rs218265				4	54542832	intergenic variant	T/C	snv		0.21	9