DisGeNET - a database of gene-disease associations

List of associated variants

Calcification of coronary artery, C1611184

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
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	18
rs1537372	CDKN2B-AS1	0.752	0.120	9	22103184	intron variant	G/A;T	snv			11
rs1412834	CDKN2B-AS1	0.790	0.080	9	22110132	intron variant	T/C	snv		0.64	9
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	9
rs9349379	PHACTR1	0.732	0.200	6	12903725	intron variant	A/G	snv		0.32	8
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	7
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			7
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	7
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			7
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	5
rs10127775	GALNT2			1	230160042	intron variant	A/G;T	snv			4
rs217181	TXNL4B			16	72080103	intron variant	C/T	snv		0.20	4
rs2731672	GRK6			5	177415473	intron variant	T/C	snv		0.66	4
rs634537	CDKN2B-AS1	0.851	0.080	9	22032153	intron variant	T/G	snv		0.28	4
rs10211524	LOC107984063 ; LINC02245			2	64980940	intron variant	G/A	snv		0.51	3
rs10738607	CDKN2B-AS1	0.925	0.080	9	22088095	intron variant	A/G	snv		0.42	3
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	3
rs4149310	ABCA1			9	104826853	intron variant	A/T	snv		0.34	3
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			3
rs944801	CDKN2B-AS1	0.882	0.120	9	22051671	intron variant	G/A;C	snv			3
rs10757272	CDKN2B-AS1	0.851	0.160	9	22088261	intron variant	C/T	snv		0.41	2
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	2
rs113533135	LRP1B	1.000	0.080	2	140268867	intron variant	T/C	snv		2.0E-02	2
rs113805659	MAGI2	1.000	0.080	7	78663475	intron variant	G/C	snv		6.1E-02	2
rs12040333	ST3GAL3	1.000	0.080	1	43848369	intron variant	G/A;C	snv			2