DisGeNET - a database of gene-disease associations

List of shared variants

Alzheimer disease, familial, type 3, C1843013

Disease: 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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
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
rs63750264	APP	0.716	0.360	21	25891784	missense variant	C/A;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
rs63750900	PSEN1	0.763	0.160	14	73198067	missense variant	G/A	snv	4.0E-06	7.0E-06	9
rs63749824	PSEN1	0.776	0.120	14	73170945	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		8
rs63751037	PSEN1	0.790	0.080	14	73173642	missense variant	A/G	snv			7
rs63750301	PSEN1	0.827	0.120	14	73198052	missense variant	C/T	snv	4.0E-06		6
rs63750907	PSEN1	0.807	0.120	14	73173667	missense variant	C/T	snv			6
rs63751068	PSEN1	0.827	0.120	14	73186920	missense variant	G/C;T	snv			6
rs63749835	PSEN1	0.851	0.080	14	73192799	missense variant	T/C	snv			5
rs63750004	PSEN1	0.851	0.080	14	73173655	missense variant	T/A;C	snv			4