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 GENOME	Num. diseases
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	6
rs113525195	PSMB5			14	23030112	intron variant	C/A;T	snv		2
rs113542380	THADA			2	43237679	intron variant	G/A	snv	4.7E-02	5
rs113700287	THRB			3	24293020	intron variant	-/GTT	delins		4
rs11771301	WIPI2			7	5195031	intron variant	C/G;T	snv		2
rs140446749	SPTA1			1	158668470	intron variant	G/A	snv	8.0E-03	2
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv		10
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv	0.76	5
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	6
rs159058	NOL4L ; LOC101929698			20	32520305	intron variant	A/C;T	snv		4
rs17476364	HK1			10	69334748	intron variant	T/C	snv	6.4E-02	8
rs17534202		1.000	0.120	1	203312047	downstream gene variant	G/C	snv	0.40	6
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv		11
rs218265				4	54542832	intergenic variant	T/C	snv	0.21	9
rs2748424	TMC6 ; TMC8			17	78128784	intron variant	C/G	snv	0.26	4
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv	0.62	4
rs35259020				9	134085798	intergenic variant	CT/-	delins	0.18	3
rs35788208				5	154654616	intergenic variant	C/T	snv	7.4E-02	2
rs4832312	RMND5A			2	86762839	intron variant	G/A;C	snv		3
rs532398216				16	182398	downstream gene variant	TGAG/-	delins	2.0E-03	5
rs592423				6	139519556	intron variant	A/C	snv	0.50	5
rs61823972	TMCC2			1	205232197	intron variant	A/C;T	snv		4
rs6592965	IKZF1			7	50360284	intron variant	G/A	snv	0.47	4
rs6600233	NPRL3			16	93505	intron variant	C/G;T	snv		2
rs706027	BZW2			7	16660352	intron variant	A/T	snv	0.43	4