DisGeNET - a database of gene-disease associations

List of shared variants

Frontotemporal dementia, C0338451

Disease: Pick Disease of the Brain

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
rs1595014		0.882	0.120	7	12148903	intergenic variant	T/A	snv		0.23	3
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs1205185774	AHSA1	0.882	0.120	14	77469161	missense variant	C/T	snv			4
rs1386984902	APP	0.790	0.160	21	26000095	missense variant	G/A	snv			9
rs63750066	APP	0.763	0.160	21	25891796	missense variant	C/T	snv	9.5E-05	6.3E-05	9
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs5848	FAM171A2 ; GRN	0.708	0.120	17	44352876	3 prime UTR variant	C/T	snv		0.41	17
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs9897526	GRN	0.925	0.120	17	44349572	non coding transcript exon variant	G/A;C	snv	0.16		2
rs1189501362	GSK3B	0.882	0.120	3	119863583	missense variant	G/A	snv		7.0E-06	4
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs866604606	MAPK1	0.882	0.120	22	21772907	missense variant	G/A	snv			4
rs1012826460	MAPT	0.925	0.120	17	45971888	missense variant	G/A	snv	4.0E-06	1.4E-05	2
rs1182182524	MAPT	0.882	0.120	17	45983724	missense variant	T/G	snv		1.4E-05	3
rs1235948930	MAPT	0.882	0.120	17	45983865	missense variant	C/T	snv		7.0E-06	4
rs1295855402	MAPT	0.925	0.120	17	46024034	missense variant	C/T	snv		7.0E-06	2
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs63749855	MAPT	0.790	0.200	17	46014271	missense variant	T/G	snv			8
rs63750129	MAPT	0.882	0.120	17	45996612	missense variant	A/C	snv	4.0E-06		4
rs63750349	MAPT	0.851	0.200	17	45996638	missense variant	C/G;T	snv	4.0E-06		5
rs63750376	MAPT	0.827	0.120	17	45996657	missense variant	G/T	snv			7
rs63750416	MAPT	0.851	0.120	17	46010373	missense variant	A/C	snv			7
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30
rs63750512	MAPT	0.827	0.160	17	46024010	missense variant	G/A;C	snv	1.2E-05		6
rs63750570	MAPT	0.827	0.120	17	46018629	missense variant	G/A	snv			8