DisGeNET - a database of gene-disease associations

List of associated variants

Nephritis, C0027697

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
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs13385731	RASGRP3	0.882	0.200	2	33476823	intron variant	T/C	snv		6.3E-02	3
rs1053874	DNASE1 ; TRAP1	0.851	0.240	16	3657746	missense variant	G/A;T	snv	0.36; 4.0E-06		7
rs17857295	MAVS	1.000	0.080	20	3857794	stop gained	C/A;G;T	snv	1.6E-05; 0.29; 4.0E-06		1
rs2326369	MAVS	0.925	0.160	20	3862337	synonymous variant	C/T	snv	9.2E-02	0.11	2
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs4917014		0.807	0.360	7	50266267	upstream gene variant	T/G	snv		0.26	8
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs3819025	IL17A	0.752	0.480	6	52186476	intron variant	G/A	snv	0.13	8.5E-02	11
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs2397084	IL17F	0.716	0.480	6	52237046	missense variant	T/C	snv	6.7E-02	6.1E-02	14
rs12150220	NLRP1	0.724	0.360	17	5582047	missense variant	A/T	snv	0.37	0.33	14
rs2670660	NLRP1	0.708	0.400	17	5615686	intron variant	A/G	snv		0.41	15
rs3758391	SIRT1	0.742	0.480	10	67883584	upstream gene variant	T/C	snv		0.64	11