DisGeNET - a database of gene-disease associations

List of associated variants

Atherosclerosis, C0004153

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
rs7895340	TCF7L2	0.851	0.160	10	113041766	intron variant	G/A	snv		0.53	4
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs4523	TBXA2R	0.776	0.280	19	3595796	missense variant	A/G	snv	0.56	0.66	8
rs4754	SPP1	0.752	0.360	4	87981540	missense variant	T/A;C	snv	0.32		12
rs16933090	SOX6	0.790	0.160	11	16434247	5 prime UTR variant	C/T	snv		0.12	7
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
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs243330	SOCS1 ; RMI2 ; LOC105371082	0.851	0.240	16	11257134	intron variant	C/T	snv		0.49	4
rs2298566	SNX19	0.827	0.040	11	130880747	missense variant	A/C;T	snv	0.77; 4.0E-06		5
rs1764391	SMIM12 ; GJA4 ; LOC105378642	0.790	0.160	1	34795168	missense variant	C/G;T	snv	0.30		7
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs17228212	SMAD3	0.807	0.160	15	67166301	intron variant	T/C	snv		0.21	8
rs4712972	SLC17A4 ; SLC17A1	0.882	0.160	6	25771819	intron variant	A/C;G	snv			3
rs1403934301	SHBG	0.882	0.120	17	7631317	missense variant	G/A	snv			3
rs774887459	SGSM3	0.882	0.080	22	40405776	missense variant	G/A	snv	4.0E-06		4
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs2227631	SERPINE1	0.742	0.200	7	101126257	upstream gene variant	A/G	snv		0.54	13
rs2228315	SELPLG	0.807	0.120	12	108624122	missense variant	C/T	snv	0.11	0.14	7
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	17
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs7629265	SCN5A	0.882	0.080	3	38607330	intron variant	C/T	snv		2.3E-02	3
rs10846744	SCARB1	0.763	0.160	12	124827879	intron variant	G/C	snv		0.32	11
rs4901536	SAMD4A	0.925	0.080	14	54733816	intron variant	T/C	snv		0.67	2
rs79681911	SAA1	0.882	0.040	11	18269755	missense variant	G/A	snv	2.1E-03	8.0E-04	3