DisGeNET - a database of gene-disease associations

List of associated variants

Ankle brachial pressure index (observable entity), C1328319

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
rs6750426				2	14991458	non coding transcript exon variant	G/A	snv		0.30	1
rs9998941	FSTL5			4	161403710	intron variant	G/A	snv		0.27	1
rs4466200	COMMD10			5	116260455	intron variant	G/A	snv		0.60	1
rs2171209	SYTL3			6	158762530	intron variant	T/C	snv		0.78	1
rs7755533	LOC105378075			6	157253299	regulatory region variant	C/T	snv		0.38	1
rs113916643				7	68950051	intergenic variant	A/-	delins		0.26	1
rs3133941				8	109703703	intergenic variant	A/G	snv		0.20	1
rs7003385	ANK1			8	41729232	intron variant	T/A;C	snv			1
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
rs2383206	CDKN2B-AS1	0.742	0.320	9	22115027	intron variant	A/G	snv		0.49	17
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
rs10116277	CDKN2B-AS1	0.827	0.160	9	22081398	intron variant	G/T	snv		0.62	8
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
rs1537375	CDKN2B-AS1	0.882	0.120	9	22116072	intron variant	T/C;G	snv			6
rs9632884	CDKN2B-AS1	0.851	0.160	9	22072302	intron variant	G/A;C	snv			6
rs10738610	CDKN2B-AS1	0.882	0.120	9	22123767	intron variant	A/C;T	snv			5
rs10811650	CDKN2B-AS1	0.882	0.200	9	22067594	intron variant	A/G	snv		0.37	5
rs3218020	CDKN2B-AS1	0.882	0.120	9	21997873	intron variant	G/A;C	snv			5
rs6475606	CDKN2B-AS1	0.882	0.080	9	22081851	intron variant	C/T	snv		0.62	5
rs944797	CDKN2B-AS1	0.882	0.120	9	22115287	intron variant	T/C;G	snv		0.49	5
rs10757269	CDKN2B-AS1	1.000	0.040	9	22072265	intron variant	A/C;G	snv			4
rs1333046	CDKN2B-AS1	0.925	0.080	9	22124124	intron variant	T/A	snv		0.43	4