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
rs63750577	PSEN1	0.827	0.120	14	73186881	missense variant	C/T	snv			8
rs63750852	PSEN1	0.790	0.120	14	73170998	missense variant	G/A;T	snv			8
rs63749806	PSEN1	0.827	0.080	14	73186902	missense variant	T/C	snv			7
rs63750802	PSEN1	0.851	0.080	14	73219144	missense variant	T/G	snv			7
rs63751032	PSEN1	0.851	0.080	14	73219156	missense variant	T/A;G	snv			7
rs63751037	PSEN1	0.790	0.080	14	73173642	missense variant	A/G	snv			7
rs63751163	PSEN1	0.807	0.120	14	73192844	missense variant	T/C	snv			7
rs765670175	PSEN1	0.790	0.120	14	73173646	missense variant	T/A	snv	8.0E-06		7
rs10524523	TOMM40	0.807	0.200	19	44899792	intron variant	TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	delins			7
rs1396086494	APP	0.851	0.080	21	26051069	missense variant	G/A	snv	4.0E-06		6
rs193922916	APP	0.827	0.080	21	25897619	missense variant	G/A;C	snv			6
rs63749805	PSEN1	0.807	0.120	14	73173577	missense variant	C/G;T	snv			6
rs63750301	PSEN1	0.827	0.120	14	73198052	missense variant	C/T	snv	4.0E-06		6
rs63750730	PSEN1	0.827	0.120	14	73173574	missense variant	C/T	snv			6
rs63750907	PSEN1	0.807	0.120	14	73173667	missense variant	C/T	snv			6
rs63751235	PSEN1	0.807	0.120	14	73198117	missense variant	C/G	snv			6
rs661	PSEN1	0.807	0.120	14	73217225	missense variant	G/A;T	snv	4.0E-06		6
rs140501902	PSEN2	0.807	0.160	1	226883774	missense variant	C/T	snv	3.6E-03	3.4E-03	6
rs63750053	PSEN1	0.827	0.120	14	73192721	missense variant	G/T	snv			5
rs63751106	PSEN1	0.827	0.080	14	73173643	missense variant	T/A;C	snv			5
rs28936380	PSEN2	0.827	0.080	1	226885546	missense variant	C/G;T	snv	1.2E-05		5
rs63749884	PSEN2	0.851	0.160	1	226888979	missense variant	G/A	snv			5
rs761592007	APOE	0.882	0.160	19	44909013	missense variant	G/A	snv	1.5E-05		4
rs63749964	APP	0.851	0.080	21	25891783	missense variant	A/C	snv			4
rs63750001	PSEN1	0.851	0.080	14	73219188	missense variant	C/T	snv			4