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
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs11739136	KCNIP1 ; KCNMB1	0.827	0.200	5	170383792	missense variant	C/T	snv	9.9E-02	8.7E-02	10
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs12917707	UMOD	0.827	0.200	16	20356368	upstream gene variant	G/T	snv		0.14	11
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs2296545	LIPJ ; RNLS	0.851	0.160	10	88583080	missense variant	C/G;T	snv	0.46		8
rs2569512	ILF3	0.925	0.080	19	10679486	intron variant	T/C	snv		0.76	5
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs3816527	PTX3 ; VEPH1	0.882	0.160	3	157437525	missense variant	C/A	snv	0.64	0.64	9
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs41507953	EPHX2	0.790	0.280	8	27500988	missense variant	A/G	snv	8.7E-02	0.13	10
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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249