DisGeNET - a database of gene-disease associations

List of shared variants

Alzheimer Disease, Early Onset, C0750901

Disease: Frontotemporal dementia

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
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs63750083	PSEN1	0.732	0.160	14	73219177	missense variant	C/A;T	snv			13
rs63751287	PSEN1	0.742	0.120	14	73192792	missense variant	A/G;T	snv			13
rs63750066	APP	0.763	0.160	21	25891796	missense variant	C/T	snv	9.5E-05	6.3E-05	9
rs1223904774	APP	0.790	0.120	21	25891772	missense variant	C/T	snv	4.0E-06	7.0E-06	8
rs1057518919	PSEN1	0.851	0.120	14	73171023	missense variant	T/G	snv			5
rs533813519	PSEN2	0.851	0.120	1	226888097	missense variant	C/A	snv	1.9E-04	4.2E-05	5
rs63750487	PSEN1	0.882	0.120	14	73192771	missense variant	C/T	snv			3