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
rs140446749	SPTA1			1	158668470	intron variant	G/A	snv		8.0E-03	2
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	5
rs17534202		1.000	0.120	1	203312047	downstream gene variant	G/C	snv		0.40	6
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs61823972	TMCC2			1	205232197	intron variant	A/C;T	snv			4
rs113542380	THADA			2	43237679	intron variant	G/A	snv		4.7E-02	5
rs4832312	RMND5A			2	86762839	intron variant	G/A;C	snv			3
rs113700287	THRB			3	24293020	intron variant	-/GTT	delins			4
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	6
rs2227930	ATR			3	142558733	synonymous variant	A/T	snv	0.55	0.63	2
rs218265				4	54542832	intergenic variant	T/C	snv		0.21	9
rs35788208				5	154654616	intergenic variant	C/T	snv		7.4E-02	2
rs875741				5	173860848	intergenic variant	G/A;C	snv			3
rs146771786	GMPR			6	16285830	missense variant	C/A	snv	1.3E-03	1.3E-03	2
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			11
rs592423				6	139519556	intron variant	A/C	snv		0.50	5
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			6
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs11771301	WIPI2			7	5195031	intron variant	C/G;T	snv			2
rs6592965	IKZF1			7	50360284	intron variant	G/A	snv		0.47	4
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	6
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