DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Calcification of coronary artery ×

Variants associated to the Gene: CDKN2B-AS1 ×

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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	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
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			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
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	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
rs1412834	CDKN2B-AS1	0.790	0.080	9	22110132	intron variant	T/C	snv		0.64	11
rs7865618	CDKN2B-AS1	0.776	0.240	9	22031006	non coding transcript exon variant	G/A;T	snv			11
rs1333047	CDKN2B-AS1	0.790	0.240	9	22124505	intron variant	A/T	snv		0.63	9
rs10116277	CDKN2B-AS1	0.827	0.160	9	22081398	intron variant	G/T	snv		0.62	8
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv		0.50	7
rs10811656	CDKN2B-AS1	0.807	0.200	9	22124473	intron variant	C/T	snv		0.47	7
rs1333042	CDKN2B-AS1	0.827	0.120	9	22103814	intron variant	A/G	snv		0.63	7
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv		0.30	7
rs7049105	CDKN2B-AS1	0.807	0.120	9	22028802	intron variant	A/G	snv		0.58	7