DisGeNET - a database of gene-disease associations

List of associated variants

Alzheimer's Disease, C0002395

Source: ALL

Results per page

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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs800292	CFH	0.645	0.560	1	196673103	missense variant	G/A	snv	0.32	0.40	33
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs1805054	HTR6	0.708	0.200	1	19666020	synonymous variant	C/T	snv	0.15; 8.0E-06	0.16	17
rs6330	NGF ; NGF-AS1	0.763	0.240	1	115286692	missense variant	G/A	snv	0.37	0.36	12
rs7483	GSTM3 ; GSTM5	0.742	0.320	1	109737079	missense variant	C/T	snv	4.0E-06; 0.35	0.26	11
rs28936379	PSEN2	0.807	0.120	1	226888977	missense variant	A/C;G;T	snv	4.0E-06		10
rs5174	LRP8	0.776	0.240	1	53247055	missense variant	C/T	snv	0.29	0.28	10
rs6656401	CR1	0.776	0.200	1	207518704	intron variant	A/G;T	snv			8
rs10399931	CHI3L1	0.807	0.320	1	203186952	upstream gene variant	T/A;C	snv			6
rs1042114	OPRD1	0.807	0.120	1	28812463	missense variant	G/C;T	snv	0.91		6