DisGeNET - a database of gene-disease associations

List of associated variants

Calcification of coronary artery, C1611184

Source: ALL

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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
rs8089491				18	31763291	upstream gene variant	G/A	snv		5.4E-02	1
rs4149310	ABCA1			9	104826853	intron variant	A/T	snv		0.34	3
rs72928364	ABI3BP	1.000	0.080	3	100894935	intron variant	C/T	snv		0.39	2
rs7804216	ACTR3C	1.000	0.080	7	149941248	intergenic variant	C/G	snv		0.24	2
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			13
rs16939881	ALDH1A2 ; AQP9			15	58179780	intron variant	G/C;T	snv			2
rs6898559	ALDH7A1	1.000	0.080	5	126557237	intron variant	G/A	snv		0.66	2
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			14
rs445925	APOC1	0.882	0.080	19	44912383	non coding transcript exon variant	G/A;C	snv			10
rs74570061	ARL9	1.000	0.080	4	56517605	intron variant	T/C	snv		3.9E-02	2
rs16879003	ATXN1	1.000	0.080	6	16745008	intron variant	T/C;G	snv			2
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	24
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs2383206	CDKN2B-AS1	0.742	0.320	9	22115027	intron variant	A/G	snv		0.49	17
rs1333040	CDKN2B-AS1	0.732	0.280	9	22083405	intron variant	C/G;T	snv			15
rs1333045	CDKN2B-AS1	0.776	0.280	9	22119196	non coding transcript exon variant	T/C	snv		0.50	14
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	14
rs1537372	CDKN2B-AS1	0.752	0.120	9	22103184	intron variant	G/A;T	snv			14