DisGeNET - a database of gene-disease associations

List of associated variants

Mild cognitive disorder, C1270972

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
rs16947151	ABI3	0.882	0.080	17	49213276	intron variant	A/G	snv		0.12	4
rs1784933	SORL1	0.882	0.080	11	121618707	intron variant	G/A	snv		0.84	3
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1859788	PILRA	0.925	0.080	7	100374211	missense variant	A/C;G	snv	4.0E-06; 0.65		3
rs2070045	SORL1	0.851	0.080	11	121577381	synonymous variant	T/G	snv	0.32	0.23	4
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs227959		1.000	0.040	17	3406923	upstream gene variant	C/T	snv			1
rs2298813	SORL1	0.790	0.120	11	121522975	missense variant	G/A;T	snv	7.2E-02; 4.0E-06		7
rs2534672	MICB	1.000	0.040	6	31497781	intron variant	G/C	snv		0.32	1
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
rs35445101	HLA-DRB1	0.925	0.080	6	32579102	missense variant	A/G	snv	4.2E-04	2.7E-02	2
rs363050	SNAP25-AS1 ; SNAP25	0.790	0.240	20	10253609	intron variant	G/A	snv		0.57	8
rs3747742	TREML2	0.882	0.080	6	41194780	missense variant	T/C	snv	0.33	0.29	3
rs3756577	CAMK2A	0.925	0.080	5	150249081	intron variant	C/T	snv		0.14	2
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	9
rs3796529	REST	0.925	0.080	4	56931248	missense variant	C/T	snv	0.22	0.22	3
rs3822606	CAMK2A	0.925	0.080	5	150261592	intron variant	G/A	snv		0.27	2
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	12
rs3851179		0.752	0.280	11	86157598	downstream gene variant	T/C	snv		0.70	15