DisGeNET - a database of gene-disease associations

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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
rs11771301	WIPI2			7	5195031	intron variant	C/G;T	snv			2
rs140446749	SPTA1			1	158668470	intron variant	G/A	snv		8.0E-03	2
rs146771786	GMPR			6	16285830	missense variant	C/A	snv	1.3E-03	1.3E-03	2
rs35788208				5	154654616	intergenic variant	C/T	snv		7.4E-02	2
rs2227930	ATR			3	142558733	synonymous variant	A/T	snv	0.55	0.63	3
rs35259020				9	134085798	intergenic variant	CT/-	delins		0.18	3
rs4832312	RMND5A			2	86762839	intron variant	G/A;C	snv			3
rs6600233	NPRL3			16	93505	intron variant	C/G;T	snv			3
rs875741				5	173860848	intergenic variant	G/A;C	snv			3
rs113700287	THRB			3	24293020	intron variant	-/GTT	delins			4
rs159058	NOL4L ; LOC101929698			20	32520305	intron variant	A/C;T	snv			4
rs2748424	TMC6 ; TMC8			17	78128784	intron variant	C/G	snv		0.26	4
rs61823972	TMCC2			1	205232197	intron variant	A/C;T	snv			4
rs6592965	IKZF1			7	50360284	intron variant	G/A	snv		0.47	4
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs754205	IRS2			13	109759295	intron variant	A/C;G	snv			4
rs8013143	PSMB5			14	23025068	intron variant	A/G	snv		0.43	4
rs113542380	THADA			2	43237679	intron variant	G/A	snv		4.7E-02	5
rs113809617	TMEM203 ; NDOR1			9	137205865	missense variant	C/G	snv	0.13	0.12	5
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv		0.62	5
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs532398216				16	182398	downstream gene variant	TGAG/-	delins		2.0E-03	5
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	6
rs592423				6	139519556	intron variant	A/C	snv		0.50	6