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	AF GENOME	Num. diseases
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
rs2618516	SPON1	0.882	0.080	11	14000092	intron variant	T/C	snv		0.65	3
rs6347	SLC6A3	0.851	0.080	5	1411297	synonymous variant	T/C	snv	0.23	0.32	4
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs137852642	NOTCH3	0.827	0.200	19	15192242	missense variant	G/A;T	snv	4.5E-06; 4.5E-06		9
rs9397456	ESR1	0.882	0.160	6	151926017	intron variant	A/G;T	snv			3
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs1884049	ESR1	0.925	0.080	6	151966232	intron variant	T/C	snv		0.75	2
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
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs3093059	CRP	0.752	0.520	1	159715346	upstream gene variant	A/G	snv		0.13	11
rs1801474	PRKN	0.851	0.080	6	162201165	missense variant	C/T	snv	7.1E-02	5.3E-02	4
rs17070145	WWC1	0.790	0.120	5	168418786	intron variant	C/T	snv		0.43	10
rs104893941	MRNIP ; SQSTM1	0.776	0.200	5	179836445	missense variant	C/T	snv	9.8E-04	1.3E-03	9
rs1805054	HTR6	0.708	0.200	1	19666020	synonymous variant	C/T	snv	0.15; 8.0E-06	0.16	17
rs910080	PDYN ; PDYN-AS1	0.851	0.120	20	1979580	3 prime UTR variant	A/G	snv		0.35	4
rs2235751	PDYN-AS1 ; PDYN	0.882	0.120	20	1989288	intron variant	A/G	snv		0.40	3
rs1997794	PDYN-AS1 ; PDYN	0.851	0.120	20	1994212	5 prime UTR variant	T/C	snv		0.50	4
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs28936380	PSEN2	0.827	0.080	1	226885546	missense variant	C/G;T	snv	1.2E-05		5
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19