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
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs2853961				6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3840870	COL1A1			17	50184820	3 prime UTR variant	-/CTTG	delins			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
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	12
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs150813342	GFI1B			9	132989126	synonymous variant	C/T	snv	4.1E-03	4.1E-03	9
rs385893		0.925	0.080	9	4763176	downstream gene variant	T/C	snv		0.44	9
rs342293	CTB-30L5.1	0.882	0.040	7	106731773	intron variant	C/G	snv		0.42	7
rs9402686	LOC105378010			6	135106679	upstream gene variant	G/A	snv		0.20	5
rs74847330	ARHGAP15			2	143074030	intergenic variant	A/G	snv		8.8E-02	4
rs12191082	ADGRF5			6	46918107	intron variant	G/A	snv		0.13	2
rs3557	FCER1G			1	161219103	3 prime UTR variant	T/G	snv		6.5E-02	2