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
rs634537	CDKN2B-AS1	0.851	0.080	9	22032153	intron variant	T/G	snv		0.28	6
rs1303	SERPINA1	0.925	0.040	14	94378506	missense variant	T/G	snv	0.28	0.22	4
rs1537373	CDKN2B-AS1	0.925	0.120	9	22103342	intron variant	T/G	snv		0.63	3
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs1537375	CDKN2B-AS1	0.882	0.120	9	22116072	intron variant	T/C;G	snv			6
rs944797	CDKN2B-AS1	0.882	0.120	9	22115287	intron variant	T/C;G	snv		0.49	5
rs1360590	CDKN2B-AS1	1.000	0.040	9	22041444	intron variant	T/C;G	snv			2
rs16879003	ATXN1	1.000	0.080	6	16745008	intron variant	T/C;G	snv			2
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	18
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs1333045	CDKN2B-AS1	0.776	0.280	9	22119196	non coding transcript exon variant	T/C	snv		0.50	14
rs1412834	CDKN2B-AS1	0.790	0.080	9	22110132	intron variant	T/C	snv		0.64	11
rs2731672	GRK6			5	177415473	intron variant	T/C	snv		0.66	6
rs615552	CDKN2B-AS1	0.925	0.120	9	22026078	intron variant	T/C	snv		0.29	4
rs6475604	CDKN2B-AS1	0.925	0.040	9	22052735	intron variant	T/C	snv		0.72	3
rs10757265	CDKN2B-AS1	1.000	0.040	9	22048860	intron variant	T/C	snv		0.49	2
rs113533135	LRP1B	1.000	0.080	2	140268867	intron variant	T/C	snv		2.0E-02	2
rs1333036	CDKN2B-AS1	1.000	0.040	9	22043820	intron variant	T/C	snv		0.58	2
rs1537376	CDKN2B-AS1	1.000	0.040	9	22116221	intron variant	T/C	snv		0.49	2
rs17214144	OSBPL3	1.000	0.080	7	24846128	intron variant	T/C	snv		0.20	2
rs6475608	CDKN2B-AS1	1.000	0.080	9	22101703	intron variant	T/C	snv		0.60	2
rs712964				22	19168604	upstream gene variant	T/C	snv		0.66	2
rs74155456		1.000	0.080	10	61070020	intergenic variant	T/C	snv		2.3E-02	2
rs74570061	ARL9	1.000	0.080	4	56517605	intron variant	T/C	snv		3.9E-02	2