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
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs140501902	PSEN2	0.807	0.160	1	226883774	missense variant	C/T	snv	3.6E-03	3.4E-03	6
rs533813519	PSEN2	0.851	0.120	1	226888097	missense variant	C/A	snv	1.9E-04	4.2E-05	5
rs143061887	PSEN2	0.925	0.080	1	226881960	missense variant	C/T	snv	1.6E-05	5.6E-05	3
rs374263073	LAMC2	0.925	0.120	1	183222116	missense variant	G/A;T	snv	1.2E-05		3
rs200169735	PSEN2	0.925	0.080	1	226895498	missense variant	C/G;T	snv	4.0E-06; 2.8E-05		2
rs63750666	PSEN2	0.925	0.080	1	226895521	missense variant	C/T	snv	3.6E-05	2.1E-05	2
rs63750812	PSEN2	0.925	0.080	1	226885623	missense variant	G/A	snv	1.6E-05	1.4E-05	2
rs1163242089	PSEN2	1.000	0.080	1	226885673	missense variant	C/G;T	snv			1
rs1347757721	PSEN2	1.000	0.080	1	226894058	missense variant	G/C	snv		7.0E-06	1
rs63750110	PSEN2	1.000	0.080	1	226895548	missense variant	A/C	snv	3.6E-05	3.5E-05	1
rs1426802434	BIN1	1.000	0.080	2	127070588	missense variant	A/T	snv	4.0E-06		1
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs923630119	TMEM106B	1.000	0.080	7	12215024	missense variant	A/T	snv			1
rs1043202	SMUG1	0.882	0.080	12	54182178	missense variant	T/A	snv			3
rs771744744	SMUG1	0.925	0.120	12	54182241	missense variant	C/T	snv	8.0E-06		3
rs2391191	DAOA-AS1 ; DAOA	0.807	0.080	13	105467097	missense variant	G/A	snv	0.40	0.32	7
rs63750687	PSEN1	0.752	0.200	14	73217137	missense variant	C/A;G;T	snv			33
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
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
rs63751287	PSEN1	0.742	0.120	14	73192792	missense variant	A/G;T	snv			13
rs63750522	PSEN1	0.827	0.120	14	73173644	missense variant	G/A;C	snv			8