DisGeNET - a database of gene-disease associations

List of associated variants

Kidney Diseases, C0022658

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs17880135	SCAF4			21	31669690	upstream gene variant	T/G	snv		3.9E-02	1
rs1202989817	SOD1 ; LOC102724449	0.716	0.360	21	31659813	missense variant	T/C;G	snv	8.0E-06	7.0E-06	18
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs4833095	TLR1	0.662	0.480	4	38798089	missense variant	T/C	snv	0.38	0.44	28
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			10
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs8177412	GPX3 ; LOC105378228	0.851	0.160	5	151020526	5 prime UTR variant	T/C	snv		0.15	5
rs426496	LOC101927318 ; AQP2	1.000	0.040	12	49954295	synonymous variant	T/C	snv	0.77	0.71	3
rs11122576	AGT	1.000	0.080	1	230710933	intron variant	T/C	snv		8.2E-02	2
rs1025423410	TLR1			4	38798831	start lost	T/C	snv			1
rs9896208	ACE			17	63498748	intron variant	T/C	snv		0.57	1
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs3923647	TLR1	0.925	0.080	4	38797918	missense variant	T/A;C;G	snv	2.7E-02; 4.0E-06; 1.6E-05		3
rs1926723	AGT	1.000	0.080	1	230704350	intron variant	T/A;C;G	snv	1.2E-05; 0.11; 2.0E-05		2
rs16139	NPY ; LOC107986777	0.658	0.560	7	24285260	missense variant	T/A;C	snv	4.0E-06; 3.0E-02		36
rs713041	GPX4	0.776	0.400	19	1106616	stop gained	T/A;C	snv	4.2E-06; 0.58		16
rs315952	IL1RN	0.763	0.400	2	113132727	missense variant	T/A;C	snv	4.0E-06; 0.31		10
rs216311	VWF	0.882	0.040	12	6019277	missense variant	T/A;C	snv	4.0E-06; 0.69		7
rs387906536	LYZ	0.851	0.200	12	69350215	missense variant	T/A;C	snv			6