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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs1805054	HTR6	0.708	0.200	1	19666020	synonymous variant	C/T	snv	0.15; 8.0E-06	0.16	17
rs367543041	TARDBP	0.742	0.200	1	11022553	missense variant	G/A;C	snv	3.0E-05		15
rs6330	NGF ; NGF-AS1	0.763	0.240	1	115286692	missense variant	G/A	snv	0.37	0.36	12
rs3093059	CRP	0.752	0.520	1	159715346	upstream gene variant	A/G	snv		0.13	11
rs6688832	H6PD	0.752	0.440	1	9263851	missense variant	G/A;C	snv	0.28; 1.2E-04		10
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		6
rs28936380	PSEN2	0.827	0.080	1	226885546	missense variant	C/G;T	snv	1.2E-05		5
rs142690225	PSEN2	0.925	0.080	1	226894111	missense variant	G/A	snv	1.1E-04	1.1E-04	3
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs3087258	IL1B	0.925	0.080	2	112837294	upstream gene variant	G/A	snv			2
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
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs334558	LOC107986119 ; GSK3B	0.701	0.320	3	120094435	upstream gene variant	A/G	snv		0.51	20
rs17518584	CADM2	0.827	0.160	3	85555773	intron variant	C/T	snv		0.50	8
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59