DisGeNET - a database of gene-disease associations

List of associated variants

Cognition Disorders, C0009241

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
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs371425292	APP	0.763	0.160	21	25897627	missense variant	C/A;T	snv	8.0E-06		10
rs387906709	UBQLN2	0.776	0.120	X	56565363	missense variant	C/A;T	snv			9
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs5522	NR3C2	0.732	0.320	4	148436323	missense variant	C/T	snv	0.88	0.89	19
rs572842823	APP	0.763	0.160	21	25897626	missense variant	T/A;G	snv			11
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs6295	HTR1A	0.645	0.200	5	63962738	intron variant	C/G	snv		0.49	40
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs6584400	NRG3	0.851	0.120	10	81896770	intron variant	G/A	snv		0.22	6
rs7157599	DEGS2	0.925	0.040	14	100159565	missense variant	C/T	snv	0.73	0.76	6
rs75548401	GBA	0.882	0.160	1	155236246	missense variant	G/A	snv	5.9E-03	6.2E-03	6
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs761715536	ADRA2A	1.000	0.040	10	111079092	stop gained	G/A;T	snv	6.4E-06; 1.3E-05		3
rs77369218	GBA	0.807	0.160	1	155235726	missense variant	T/A	snv			7
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs8074995	PRKCA	0.925	0.040	17	66796013	intron variant	G/A	snv		0.13	5