DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs12027135	MACO1			1	25449242	intron variant	A/T	snv		0.50	3
rs12087003	ABCA4			1	94037627	intron variant	A/G	snv		6.3E-02	3
rs12113155	PRKAG2			7	151607887	intron variant	A/C;G	snv			3
rs12127701	MYBPHL			1	109295642	intron variant	A/G	snv		6.2E-02	3
rs12248199	NRG3			10	82032473	intron variant	G/A	snv		4.0E-02	3
rs12269156	PRKCQ			10	6470618	intron variant	A/G	snv		3.4E-02	3
rs12691202	APOB			2	21026844	missense variant	C/T	snv	2.7E-02	2.7E-02	3
rs12713956	APOB			2	21018633	intron variant	A/G	snv		0.14	3
rs12720826	APOB			2	21042823	intron variant	T/C	snv		3.8E-02	3
rs12720828	APOB			2	21018872	intron variant	C/T	snv		0.13	3
rs12720838	APOB			2	21024339	3 prime UTR variant	C/T	snv		0.14	3
rs12720900	CETP			16	56977385	non coding transcript exon variant	T/C	snv		8.9E-04	3
rs12916	HMGCR ; CERT1	0.807	0.240	5	75360714	3 prime UTR variant	T/C;G	snv		0.37	3
rs13465	ILF3			19	10692116	3 prime UTR variant	A/C;G	snv			3
rs1367117	APOB	1.000	0.080	2	21041028	missense variant	G/A	snv	0.26	0.24	3
rs1529729	SMARCA4			19	11052886	intron variant	C/T	snv		0.58	3
rs1564348	SLC22A1			6	160157828	intron variant	T/C	snv		0.14	3
rs16853540	MECOM			3	169343279	intron variant	G/A	snv		2.2E-02	3
rs16856314	ABCB11			2	168966582	intron variant	G/A	snv		3.0E-02	3
rs16916733	FOXJ2			12	8043372	intron variant	C/T	snv		4.4E-02	3
rs17035665	CELSR2			1	109271097	intron variant	C/T	snv		0.19	3
rs17111503	PCSK9	0.925	0.160	1	55037775	upstream gene variant	A/G	snv		0.22	3
rs17139292	CUBN			10	16828081	intron variant	G/A	snv		1.9E-02	3
rs17238484	HMGCR	1.000	0.080	5	75352671	intron variant	G/T	snv		0.22	3
rs17242787	LDLR			19	11091784	intron variant	T/A	snv		6.4E-03	3