DisGeNET - a database of gene-disease associations

List of associated variants

Dementia, C0497327

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	Num. diseases
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05	237
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		121
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29	113
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv		59
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05	57
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv		42
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06	40
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06	40
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62	35
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03	35
rs63750687	PSEN1	0.752	0.200	14	73217137	missense variant	C/A;G;T	snv		33
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv		32
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05	30
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03	28
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins		25
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05	24
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv		23
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05	23
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06	21
rs4291	ACE	0.724	0.400	17	63476833	upstream gene variant	T/A;C	snv		20
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv		19
rs1044396	CHRNA4	0.742	0.240	20	63349782	missense variant	G/A;C	snv	0.47; 6.1E-05	17
rs63750264	APP	0.716	0.360	21	25891784	missense variant	C/A;G;T	snv		17