DisGeNET - a database of gene-disease associations

List of associated variants

Nephritis, C0027697

Source: ALL

Results per page

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs3751143	P2RX7 ; LOC105370032	0.742	0.480	12	121184501	missense variant	A/C;G	snv	0.19; 4.0E-06		12
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			11
rs1053874	DNASE1 ; TRAP1	0.851	0.240	16	3657746	missense variant	G/A;T	snv	0.36; 4.0E-06		7
rs10127939	FCGR3A	0.851	0.160	1	161548543	missense variant	A/C;T	snv	4.3E-02; 5.5E-02		5
rs1556445736	COL4A5	0.925	0.200	X	108667167	synonymous variant	A/G	snv			5
rs6590330		0.851	0.280	11	128441164	intergenic variant	G/A;T	snv			5
rs104886308	COL4A5	0.851	0.160	X	108696350	missense variant	G/A;C;T	snv	2.2E-05		4
rs17857295	MAVS	1.000	0.080	20	3857794	stop gained	C/A;G;T	snv	1.6E-05; 0.29; 4.0E-06		1
rs35366573	CD46	0.882	0.120	1	207785101	missense variant	C/T	snv	1.5E-02	1.5E-02	3
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs2397084	IL17F	0.716	0.480	6	52237046	missense variant	T/C	snv	6.7E-02	6.1E-02	14
rs13385731	RASGRP3	0.882	0.200	2	33476823	intron variant	T/C	snv		6.3E-02	3
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs3819025	IL17A	0.752	0.480	6	52186476	intron variant	G/A	snv	0.13	8.5E-02	11
rs10847697	SLC15A4	0.882	0.200	12	128814840	synonymous variant	G/A	snv	0.13	9.1E-02	3
rs2326369	MAVS	0.925	0.160	20	3862337	synonymous variant	C/T	snv	9.2E-02	0.11	2
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs2230911	LOC105370032 ; P2RX7	0.807	0.360	12	121177328	missense variant	C/G	snv	0.14	0.12	6
rs1800897	PAX2	0.925	0.240	10	100809115	synonymous variant	C/T	snv	7.4E-02	0.13	2
rs1065489	CFH	0.695	0.440	1	196740644	missense variant	G/T	snv	0.20	0.15	19