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
rs12654264	HMGCR	0.925	0.120	5	75352778	intron variant	A/T	snv		0.38	7
rs2000999	HPR ; TXNL4B	1.000	0.080	16	72074194	intron variant	G/A	snv		0.16	7
rs3846663	HMGCR ; CERT1	0.882	0.120	5	75359901	intron variant	C/T	snv		0.35	7
rs6982636				8	125467073	intron variant	G/A	snv		0.43	7
rs9534275	BRCA2	0.851	0.080	13	32366208	intron variant	C/A	snv		0.52	7
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv		0.39	6
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv		2.1E-05	6
rs1160985	TOMM40	1.000	0.080	19	44900155	intron variant	C/T	snv		0.52	6
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	6
rs17240378	LCAT			16	67942790	intron variant	G/C;T	snv	4.0E-06		6
rs1874148	VCL			10	74114657	intron variant	A/G	snv		1.8E-02	6
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	6
rs283813	NECTIN2	1.000	0.080	19	44885917	intron variant	T/A	snv	0.11	0.16	6
rs2980869				8	125476008	intron variant	C/T	snv		0.48	6
rs2980875				8	125469505	intron variant	A/C;G;T	snv			6
rs2980880				8	125468730	intron variant	G/A	snv		0.69	6
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs519113	NECTIN2	1.000	0.080	19	44873027	intron variant	C/G;T	snv			6
rs737410	ARRB1			11	75315038	intron variant	A/G	snv		4.3E-02	6
rs8138057	PDXP			22	37665537	intron variant	G/A	snv	3.0E-03	1.3E-02	6
rs9341023	ESR1			6	152062578	intron variant	C/T	snv			6
rs10199768	APOB			2	21021128	intron variant	G/T	snv		0.35	5
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv			5
rs11828157	MMP13			11	102947395	intron variant	G/A	snv		4.7E-02	5
rs11921179	TRH			3	129976195	intron variant	G/A	snv		0.96	5