DisGeNET - a database of gene-disease associations

List of associated variants

Frontotemporal Lobar Degeneration, C0751072

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
rs706118	BAG1	1.000	0.120	9	33256181	intron variant	T/G	snv		0.39	1
rs1415210991	BDNF	1.000	0.120	11	27701003	5 prime UTR variant	G/C	snv	4.2E-06		1
rs1431475678	BDNF ; BDNF-AS	1.000	0.120	11	27658555	missense variant	G/C	snv		7.0E-06	1
rs4859147	DCUN1D1	1.000	0.120	3	182964065	intron variant	T/C	snv	0.56	0.48	1
rs1417841099	ELANE	1.000	0.120	19	852917	missense variant	C/G	snv	4.6E-06		1
rs750810467	GRN	1.000	0.120	17	44351420	missense variant	G/A;C	snv	4.8E-05; 4.0E-06		1
rs7967622	HNRNPA1	1.000	0.120	12	54284196	intron variant	C/T	snv		0.76	1
rs17350674	KIF24	1.000	0.120	9	34306412	stop gained	C/A;T	snv	0.16; 4.1E-06		1
rs63750096	MAPT	1.000	0.120	17	45996557	missense variant	G/A;T	snv	6.3E-04		1
rs1390191775	UBQLN2	1.000	0.120	X	56564879	missense variant	A/C;G	snv	5.5E-06; 5.5E-06		1
rs753009660	UBQLN2	1.000	0.120	X	56564910	missense variant	C/G	snv	2.2E-05	3.8E-05	1
rs1163763		0.925	0.120	12	17567834	intron variant	G/T	snv		0.24	2
rs1052352	FUS	0.925	0.120	16	31183958	synonymous variant	C/T	snv	0.53	0.45	2
rs741810	FUS	0.925	0.120	16	31182621	synonymous variant	C/A;G;T	snv	0.32; 4.0E-06; 4.0E-06		2
rs752076094	FUS	0.925	0.120	16	31185175	missense variant	A/G	snv	8.4E-06	2.8E-05	2
rs533451404	GRN	0.925	0.120	17	44349267	missense variant	G/A	snv	1.6E-05	2.1E-05	2
rs536551654	NGFR ; LOC100288866	1.000	0.120	17	49511972	missense variant	T/C	snv			2
rs1319062081	SOD1 ; SCAF4	0.925	0.120	21	31668537	stop gained	G/T	snv			2
rs63751180	GRN	0.882	0.120	17	44352087	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		3
rs10814083	KIF24	0.882	0.160	9	34256349	synonymous variant	C/T	snv	0.40	0.34	3
rs63750092	MAPT	0.882	0.120	17	46014277	missense variant	A/T	snv			3
rs1133763	CCL8	0.882	0.200	17	34320812	missense variant	A/C	snv	0.21	0.15	4
rs63750541	GRN	0.851	0.160	17	44351586	missense variant	G/A;C	snv	8.4E-04		4
rs63751243	GRN	0.882	0.160	17	44349190	missense variant	C/A;T	snv	4.0E-06		4
rs753070659	GRN	0.851	0.160	17	44350481	missense variant	G/A;C	snv	1.2E-05		4