DisGeNET - a database of gene-disease associations

List of associated variants

Presenile dementia, C0011265

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
rs2281983	PITX3	0.851	0.080	10	102231624	missense variant	G/A;C;T	snv	0.62; 8.3E-06		4
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs652438	MMP12	0.716	0.400	11	102865911	missense variant	T/C;G	snv	7.1E-02; 2.5E-04		14
rs223331	CISD2	0.851	0.160	4	102872408	intron variant	T/A;C	snv			5
rs223330	CISD2	0.851	0.160	4	102872502	intron variant	T/A;C	snv			4
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	9
rs1394871591	ABCA1	0.827	0.200	9	104903619	missense variant	G/C	snv	4.8E-06		5
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		6
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs2200733		0.752	0.240	4	110789013	intergenic variant	C/T	snv		0.18	12
rs11669576	LDLR ; MIR6886	0.851	0.160	19	11111624	missense variant	G/A	snv	4.3E-02	8.4E-02	6
rs5930	MIR6886 ; LDLR	0.827	0.200	19	11113589	synonymous variant	A/G	snv	0.63	0.66	8
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs3087258	IL1B	0.925	0.080	2	112837294	upstream gene variant	G/A	snv			2
rs6330	NGF ; NGF-AS1	0.763	0.240	1	115286692	missense variant	G/A	snv	0.37	0.36	12
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2420616	GRK5	0.882	0.080	10	119316984	intron variant	A/G	snv		0.69	3
rs4752293	GRK5	0.882	0.080	10	119342186	intron variant	C/T	snv		0.74	3
rs334558	LOC107986119 ; GSK3B	0.701	0.320	3	120094435	upstream gene variant	A/G	snv		0.51	20
rs2298813	SORL1	0.790	0.120	11	121522975	missense variant	G/A;T	snv	7.2E-02; 4.0E-06		7
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121