DisGeNET - a database of gene-disease associations

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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
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;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
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
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
rs63751068	PSEN1	0.827	0.120	14	73186920	missense variant	G/C;T	snv			6
rs63751223	PSEN1	0.807	0.160	14	73219161	missense variant	G/C	snv			6
rs63751278	PSEN1	0.827	0.120	14	73173631	missense variant	A/G	snv			6
rs661	PSEN1	0.807	0.120	14	73217225	missense variant	G/A;T	snv	4.0E-06		6
rs533813519	PSEN2	0.851	0.120	1	226888097	missense variant	C/A	snv	1.9E-04	4.2E-05	5
rs63749836	PSEN1	0.827	0.160	14	73192786	missense variant	G/A	snv			5
rs63750053	PSEN1	0.827	0.120	14	73192721	missense variant	G/T	snv			5
rs1566650594	PSEN1	0.851	0.120	14	73206384	splice acceptor variant	A/T	snv			4
rs63750450	PSEN1	0.851	0.120	14	73173571	missense variant	A/G	snv			4
rs63750418	PSEN1	0.882	0.120	14	73186877	missense variant	T/C	snv			3