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
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs1163763		0.925	0.120	12	17567834	intron variant	G/T	snv		0.24	2
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
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1431475678	BDNF ; BDNF-AS	1.000	0.120	11	27658555	missense variant	G/C	snv		7.0E-06	1
rs1133763	CCL8	0.882	0.200	17	34320812	missense variant	A/C	snv	0.21	0.15	4
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs63750355	CHMP2B	0.827	0.160	3	87253472	stop gained	C/T	snv			5
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
rs5848	FAM171A2 ; GRN	0.708	0.120	17	44352876	3 prime UTR variant	C/T	snv		0.41	17
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
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
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
rs763841075	GRN	0.851	0.120	17	44350293	missense variant	T/C	snv	1.8E-04	1.1E-04	4
rs63751180	GRN	0.882	0.120	17	44352087	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		3
rs533451404	GRN	0.925	0.120	17	44349267	missense variant	G/A	snv	1.6E-05	2.1E-05	2
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