DisGeNET - a database of gene-disease associations

List of associated variants

Mild cognitive disorder, C1270972

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
rs35445101	HLA-DRB1	0.925	0.080	6	32579102	missense variant	A/G	snv	4.2E-04	2.7E-02	2
rs1130399	HLA-DQB1	1.000	0.040	6	32661978	missense variant	G/A;T	snv	0.20		1
rs104894103	APTX	0.807	0.280	9	32974495	stop gained	C/G;T	snv	4.0E-06; 1.6E-04		6
rs1207568	KL	0.925	0.120	13	33016046	upstream gene variant	G/A	snv		0.17	3
rs9527025	KL	1.000	0.040	13	33054056	missense variant	G/C;T	snv	0.14		1
rs227959		1.000	0.040	17	3406923	upstream gene variant	C/T	snv			1
rs1187120		0.925	0.040	6	34182850	intergenic variant	T/C	snv		0.99	3
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs11667768	PLD3 ; C19orf47	1.000	0.040	19	40348525	5 prime UTR variant	C/T	snv	6.3E-02	0.11	1
rs10407447	PLD3	1.000	0.040	19	40363275	intron variant	A/G	snv		0.20	1
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs9357347	LOC107986595	0.851	0.080	6	41182853	intergenic variant	A/C;T	snv			4
rs3747742	TREML2	0.882	0.080	6	41194780	missense variant	T/C	snv	0.33	0.29	3
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs7354779	DNMT3L ; DNMT3L-AS1	0.827	0.200	21	44250887	missense variant	T/C	snv	0.21		6
rs11556510	TOMM40	1.000	0.040	19	44891562	missense variant	T/G	snv	9.8E-03	1.2E-02	1
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs157581	TOMM40	0.925	0.080	19	44892457	synonymous variant	T/C	snv	0.25	0.29	3
rs59007384	TOMM40	0.851	0.080	19	44893408	intron variant	G/A;T	snv			4
rs10119	TOMM40	0.925	0.080	19	44903416	3 prime UTR variant	G/A	snv		0.28	5
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs16947151	ABI3	0.882	0.080	17	49213276	intron variant	A/G	snv		0.12	4
rs12752888	LINC02784	0.851	0.160	1	54527266	downstream gene variant	T/C	snv		0.26	4