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
rs10115928	ABCA1			9	104888562	intron variant	C/T	snv		0.47	1
rs2275544	ABCA1			9	104888931	intron variant	T/C	snv		0.14	3
rs12686004	ABCA1	1.000	0.040	9	104891145	intron variant	G/A	snv		9.1E-02	3
rs3858076	ABCA1			9	104893841	intron variant	A/C	snv		0.20	3
rs3905000	ABCA1	0.925	0.080	9	104894789	intron variant	G/A	snv		0.14	3
rs3847305	ABCA1			9	104894972	intron variant	G/C	snv		0.25	3
rs12341993	ABCA1			9	104896629	intron variant	C/A;T	snv			3
rs2777784	ABCA1			9	104898778	intron variant	A/G	snv		0.47	1
rs2575875	ABCA1			9	104900213	intron variant	G/A	snv		0.46	1
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv		0.28	7
rs2575876	ABCA1			9	104903458	intron variant	G/A	snv		0.24	4
rs2254819	ABCA1			9	104904133	intron variant	T/C;G	snv			3
rs13284054	ABCA1			9	104906792	intron variant	T/C	snv		0.12	3
rs4100654	ABCA1			9	104906960	intron variant	T/C	snv		8.3E-02	3
rs2777795	ABCA1			9	104910084	intron variant	G/A	snv		8.8E-02	3
rs16943577	MYH3			17	10635129	intron variant	G/C	snv		2.6E-02	1
rs13465	ILF3			19	10692116	3 prime UTR variant	A/C;G	snv			3
rs12247406	SORCS1			10	106996746	intron variant	G/A	snv		1.3E-02	3
rs1529711	CARM1	1.000	0.080	19	10912758	intron variant	C/T	snv		0.13	1
rs585362				1	109247173	upstream gene variant	C/G;T	snv			4
rs10858082	CELSR2			1	109256099	intron variant	G/A	snv		0.48	3
rs4970833	CELSR2			1	109262024	intron variant	G/A	snv		0.36	3
rs6698843	CELSR2	0.925	0.080	1	109264212	synonymous variant	C/A;T	snv	4.0E-06; 0.44		3
rs6689614	CELSR2			1	109264477	synonymous variant	G/A;C	snv	0.44		3
rs6657811	CELSR2			1	109264661	intron variant	A/C;T	snv	4.0E-06; 0.10		3