DisGeNET - a database of gene-disease associations

List of shared variants

Hypertensive disease, C0020538

Disease: Chronic Kidney Diseases

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
rs1057518797	PKD2			4	88008090	frameshift variant	CCCGGGCA/TAGGACG	delins			3
rs2569512	ILF3	0.925	0.080	19	10679486	intron variant	T/C	snv		0.76	5
rs7195830	CYBA	0.851	0.080	16	88643304	3 prime UTR variant	A/G	snv	0.62	0.69	6
rs76974938	CFAP298-TCP10L ; CFAP298	1.000	0.080	21	32609946	missense variant	C/T	snv	1.3E-04	5.5E-04	3
rs2296545	LIPJ ; RNLS	0.851	0.160	10	88583080	missense variant	C/G;T	snv	0.46		8
rs3816527	PTX3 ; VEPH1	0.882	0.160	3	157437525	missense variant	C/A	snv	0.64	0.64	9
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs6929846	BTN2A1	0.827	0.160	6	26458037	5 prime UTR variant	T/C	snv		0.70	10
rs11739136	KCNIP1 ; KCNMB1	0.827	0.200	5	170383792	missense variant	C/T	snv	9.9E-02	8.7E-02	10
rs12917707	UMOD	0.827	0.200	16	20356368	upstream gene variant	G/T	snv		0.14	11
rs4293393	UMOD	0.827	0.200	16	20353266	intron variant	A/G	snv		0.20	8
rs4362	ACE	0.807	0.240	17	63496400	missense variant	T/C;G	snv	0.52; 1.2E-05	0.51	9
rs41507953	EPHX2	0.790	0.280	8	27500988	missense variant	A/G	snv	8.7E-02	0.13	10
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs679620	MMP3	0.716	0.360	11	102842889	missense variant	T/C	snv	0.58	0.57	17
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs7069102	SIRT1	0.790	0.440	10	67903362	intron variant	C/G	snv		0.64	10
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93