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
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	23
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	23
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			23
rs174533	MYRF ; TMEM258	0.763	0.160	11	61781553	intron variant	G/A	snv	0.37	0.29	17
rs7705526	TERT	0.776	0.240	5	1285859	intron variant	C/A;T	snv			15
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs2519093	ABO	0.882	0.200	9	133266456	intron variant	T/C	snv			14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv		0.37	13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs4837892	TTLL11			9	121826025	intron variant	G/T	snv		0.36	13
rs7296503	PDZRN4			12	41306962	intron variant	C/T	snv		0.57	13
rs76792961	FAM234A			16	243594	intron variant	C/T	snv		7.3E-03	13
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs17696736	NAA25	0.827	0.240	12	112049014	intron variant	A/G	snv		0.30	12
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs35979828	NFE2			12	54292096	intron variant	C/T	snv		5.0E-02	9
rs10224210	PRKAG2	1.000	0.040	7	151716108	intron variant	T/C	snv		0.21	8
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8