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
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv	0.67	23
rs13331259	FAM234A			16	249924	intron variant	A/G	snv	3.0E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv		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
rs6584283	LINC01475	0.776	0.080	10	99530544	intron variant	T/C	snv	0.56	12
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv		11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv	2.1E-02	10
rs76428106	FLT3	0.851	0.040	13	28029870	intron variant	T/C;G	snv		10
rs35979828	NFE2			12	54292096	intron variant	C/T	snv	5.0E-02	9
rs445	CDK6			7	92779056	intron variant	C/T	snv	0.14	9
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv		8
rs12266014	PRTFDC1			10	24922362	intron variant	C/T	snv	0.26	7
rs2038700	STXBP6			14	24992783	intron variant	T/C	snv	0.53	7
rs333947	CSF1			1	109928142	intron variant	G/A	snv	0.13	7
rs3731211	CDKN2A			9	21986848	intron variant	T/A	snv	0.74	7
rs13063578	SETD2			3	47046347	intron variant	T/A	snv	0.46	5
rs11327184	CCDC26			8	129592027	intron variant	C/-	delins	0.40	4
rs12711490		0.925	0.080	16	85939422	intron variant	T/C	snv	0.18	4
rs13277237	CCDC26			8	129592317	intron variant	G/A	snv	0.53	4
rs1700159	ACVRL1	1.000	0.040	12	51912002	intron variant	C/A;G;T	snv		4