DisGeNET - a database of gene-disease associations

List of shared variants

Dementia, C0497327

Disease: Alzheimer's Disease

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
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
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
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	9
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		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
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
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
rs3824968	SORL1	0.925	0.080	11	121605213	synonymous variant	T/A	snv	0.39	0.29	2
rs1010159	SORL1	0.882	0.080	11	121612692	non coding transcript exon variant	C/T	snv	0.55	0.55	3
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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs17070145	WWC1	0.790	0.120	5	168418786	intron variant	C/T	snv		0.43	10
rs1805054	HTR6	0.708	0.200	1	19666020	synonymous variant	C/T	snv	0.15; 8.0E-06	0.16	17
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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs63750151	APP	0.882	0.080	21	25891761	missense variant	C/G;T	snv			3