DisGeNET - a database of gene-disease associations

List of associated variants

Carotid Stenosis, C0007282

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
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs5355	C1orf112 ; SELE	0.742	0.240	1	169726729	missense variant	G/A	snv	4.5E-02	3.3E-02	14
rs17611	C5	0.732	0.480	9	121006922	missense variant	C/T	snv	0.47	0.36	14
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs1466535	LRP1	0.790	0.160	12	57140687	intron variant	G/A;C	snv			9
rs9333025	CYP4A11	0.851	0.200	1	46931231	intron variant	C/T	snv		9.4E-02	8
rs7857345	CDKN2B-AS1	0.925	0.080	9	22087474	non coding transcript exon variant	T/A;C	snv			4
rs2317676	ITGB3 ; THCAT158	0.882	0.160	17	47310917	3 prime UTR variant	A/G	snv		9.4E-02	3
rs1131882	TBXA2R	0.882	0.200	19	3595925	missense variant	G/A	snv	0.22	0.15	3
rs17110453	CYP2C8	0.925	0.080	10	95069772	upstream gene variant	A/C	snv		0.11	2
rs1371097	P2RY1	1.000	0.080	3	152834401	upstream gene variant	C/T	snv		0.32	1