DisGeNET - a database of gene-disease associations

List of associated variants

Alzheimer Disease, Early Onset, C0750901

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
rs1043202	SMUG1	0.882	0.080	12	54182178	missense variant	T/A	snv			3
rs1057518919	PSEN1	0.851	0.120	14	73171023	missense variant	T/G	snv			5
rs1163242089	PSEN2	1.000	0.080	1	226885673	missense variant	C/G;T	snv			1
rs1179768627	PSEN1	0.925	0.080	14	73198064	missense variant	T/G	snv	4.0E-06		2
rs1191863771	APP	0.925	0.080	21	25911833	missense variant	A/G	snv	4.0E-06		3
rs1208508997	APP	1.000	0.080	21	26051097	missense variant	G/C	snv	4.0E-06		1
rs121917808	PSEN1	0.882	0.080	14	73219192	missense variant	C/A	snv			3
rs1223904774	APP	0.790	0.120	21	25891772	missense variant	C/T	snv	4.0E-06	7.0E-06	8
rs1231783932	APP	0.763	0.120	21	26051171	missense variant	T/A;C	snv	1.2E-05		11
rs1275544322	APP	0.882	0.160	21	25975185	missense variant	T/C	snv	4.0E-06	7.0E-06	3
rs1347757721	PSEN2	1.000	0.080	1	226894058	missense variant	G/C	snv		7.0E-06	1
rs1396086494	APP	0.851	0.080	21	26051069	missense variant	G/A	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
rs1426802434	BIN1	1.000	0.080	2	127070588	missense variant	A/T	snv	4.0E-06		1
rs143061887	PSEN2	0.925	0.080	1	226881960	missense variant	C/T	snv	1.6E-05	5.6E-05	3
rs17125721	PSEN1	0.763	0.120	14	73206470	missense variant	A/G	snv	1.5E-02	1.5E-02	14
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs182024939	MAPT	1.000	0.080	17	46010327	missense variant	G/A;T	snv	5.2E-06		1
rs200169735	PSEN2	0.925	0.080	1	226895498	missense variant	C/G;T	snv	4.0E-06; 2.8E-05		2
rs200347552	APP	0.925	0.080	21	26090000	missense variant	G/A	snv	1.6E-05	3.5E-05	2
rs200576075	PSEN1	0.925	0.080	14	73171031	missense variant	C/T	snv			2
rs2391191	DAOA-AS1 ; DAOA	0.807	0.080	13	105467097	missense variant	G/A	snv	0.40	0.32	7
rs367709245	APP	1.000	0.080	21	25891634	intron variant	TACTTA/-	delins		2.3E-03	1
rs371425292	APP	0.763	0.160	21	25897627	missense variant	C/A;T	snv	8.0E-06		10
rs372642708	APP	0.925	0.080	21	26051152	missense variant	C/T	snv	2.4E-05	9.8E-05	2