DisGeNET - a database of gene-disease associations

List of associated variants

Familial Alzheimer Disease (FAD), C0276496

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs63750264	APP	0.716	0.360	21	25891784	missense variant	C/A;G;T	snv			17
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs17125721	PSEN1	0.763	0.120	14	73206470	missense variant	A/G	snv	1.5E-02	1.5E-02	14
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
rs1231783932	APP	0.763	0.120	21	26051171	missense variant	T/A;C	snv	1.2E-05		11
rs572842823	APP	0.763	0.160	21	25897626	missense variant	T/A;G	snv			11
rs371425292	APP	0.763	0.160	21	25897627	missense variant	C/A;T	snv	8.0E-06		10
rs63750526	PSEN1	0.776	0.160	14	73192832	missense variant	C/A	snv			10
rs63750590	PSEN1	0.790	0.120	14	73186860	missense variant	A/G	snv			10
rs28936379	PSEN2	0.807	0.120	1	226888977	missense variant	A/C;G;T	snv	4.0E-06		10
rs63750066	APP	0.763	0.160	21	25891796	missense variant	C/T	snv	9.5E-05	6.3E-05	9
rs63750900	PSEN1	0.763	0.160	14	73198067	missense variant	G/A	snv	4.0E-06	7.0E-06	9
rs1223904774	APP	0.790	0.120	21	25891772	missense variant	C/T	snv	4.0E-06	7.0E-06	8
rs63750847	APP	0.790	0.120	21	25897620	missense variant	C/T	snv	4.5E-04	3.0E-04	8
rs63751039	APP	0.776	0.200	21	25891855	missense variant	T/C	snv			8
rs63749824	PSEN1	0.776	0.120	14	73170945	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		8
rs63750311	PSEN1	0.790	0.240	14	73192647	missense variant	A/C	snv			8
rs63750522	PSEN1	0.827	0.120	14	73173644	missense variant	G/A;C	snv			8