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
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
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
rs800292	CFH	0.645	0.560	1	196673103	missense variant	G/A	snv	0.32	0.40	33
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs1065489	CFH	0.695	0.440	1	196740644	missense variant	G/T	snv	0.20	0.15	19
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs2670660	NLRP1	0.708	0.400	17	5615686	intron variant	A/G	snv		0.41	15
rs2397084	IL17F	0.716	0.480	6	52237046	missense variant	T/C	snv	6.7E-02	6.1E-02	14
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs12150220	NLRP1	0.724	0.360	17	5582047	missense variant	A/T	snv	0.37	0.33	14
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv		0.44	13
rs3751143	P2RX7 ; LOC105370032	0.742	0.480	12	121184501	missense variant	A/C;G	snv	0.19; 4.0E-06		12
rs3819025	IL17A	0.752	0.480	6	52186476	intron variant	G/A	snv	0.13	8.5E-02	11
rs3758391	SIRT1	0.742	0.480	10	67883584	upstream gene variant	T/C	snv		0.64	11
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			11
rs4917014		0.807	0.360	7	50266267	upstream gene variant	T/G	snv		0.26	8
rs6677604	CFH	0.827	0.200	1	196717788	intron variant	G/A	snv		0.23	7
rs1053874	DNASE1 ; TRAP1	0.851	0.240	16	3657746	missense variant	G/A;T	snv	0.36; 4.0E-06		7
rs11864909	PDILT	0.851	0.160	16	20389517	intron variant	C/T	snv		0.23	7