DisGeNET - a database of gene-disease associations

List of associated variants

Cognition Disorders, C0009241

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
rs1018381	DTNBP1	0.882	0.040	6	15656839	intron variant	G/A	snv		0.16	6
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs10748842	NRG3	0.807	0.120	10	81889983	intron variant	T/C	snv		0.13	8
rs1108580	DBH	0.790	0.240	9	133639992	splice region variant	A/G	snv	0.45	0.54	9
rs11136000	CLU	0.752	0.160	8	27607002	intron variant	T/C	snv		0.56	19
rs121909668	FUS	0.790	0.120	16	31191418	missense variant	C/A;G;T	snv	1.2E-05		8
rs1223904774	APP	0.790	0.120	21	25891772	missense variant	C/T	snv	4.0E-06	7.0E-06	8
rs1245342105	SPTBN1	1.000	0.040	2	54622367	missense variant	T/C	snv	4.0E-06		2
rs1315695444	SELP	1.000	0.040	1	169611580	missense variant	C/G	snv	4.0E-06	1.4E-05	2
rs1329650	HECTD2-AS1	0.882	0.080	10	91588363	regulatory region variant	G/A;T	snv			6
rs1386984902	APP	0.790	0.160	21	26000095	missense variant	G/A	snv			9
rs1611115	DBH	0.732	0.280	9	133635393	upstream gene variant	T/C	snv		0.80	16
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	37
rs1800557	APP	0.925	0.040	21	25891795	missense variant	G/A	snv	4.0E-05	4.2E-05	3
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2189814	GRM3	0.925	0.040	7	86702440	intron variant	T/A;C	snv			3
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs2344484		0.925	0.040	5	135540941	upstream gene variant	A/G	snv		0.47	3
rs28936379	PSEN2	0.807	0.120	1	226888977	missense variant	A/C;G;T	snv	4.0E-06		10
rs33939927	LRRK2	0.708	0.120	12	40310434	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		24