DisGeNET - a database of gene-disease associations

List of associated variants

Hyperactive behavior, C0424295

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
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs363043	SNAP25-AS1 ; SNAP25	0.925	0.080	20	10245498	intron variant	C/T	snv		0.30	3
rs3746544	SNAP25 ; SNAP25-AS1	0.790	0.120	20	10306436	3 prime UTR variant	G/T	snv		0.68	10
rs1057519866	NT5C2	0.851	0.120	10	103093198	missense variant	C/T	snv			5
rs1331851285	CASP1	1.000	0.080	11	105029220	missense variant	T/C	snv		1.4E-05	2
rs566794487	CRY1			12	106997986	missense variant	A/C	snv	3.6E-05		1
rs104895321	MVK	0.882	0.240	12	109591301	missense variant	C/G;T	snv	1.4E-04		4
rs104895358	MVK			12	109595148	missense variant	G/A	snv	1.2E-05		2
rs28934897	MVK	0.790	0.400	12	109596515	missense variant	G/A	snv	1.6E-03	1.5E-03	10
rs9990174	SLC6A1	1.000	0.040	3	10998753	intron variant	G/T	snv		0.31	2
rs2944366	SLC6A1 ; SLC6A1-AS1	1.000	0.040	3	11011556	intron variant	T/C	snv		0.25	2
rs1170695	SLC6A1 ; SLC6A1-AS1	1.000	0.040	3	11013652	5 prime UTR variant	A/G	snv		0.35	2
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs1800544	ADRA2A	0.790	0.160	10	111076745	upstream gene variant	G/C	snv		0.59	12
rs1800035	ADRA2A	0.925	0.080	10	111078794	missense variant	C/G;T	snv	1.9E-03		4
rs33980500	TRAF3IP2-AS1 ; TRAF3IP2	0.742	0.200	6	111592059	missense variant	C/T	snv	8.6E-02	9.7E-02	14
rs397507548	PTPN11	0.851	0.160	12	112489093	missense variant	A/C	snv			6
rs397509345	PTPN11	0.851	0.160	12	112489093	missense variant	AG/CC	mnv			5
rs2303380	TTC12	1.000	0.040	11	113329987	splice region variant	G/A	snv	0.61	0.64	2
rs6278	DRD2	1.000	0.080	11	113410002	3 prime UTR variant	C/A	snv		0.14	2
rs2283265	DRD2	0.776	0.160	11	113414814	intron variant	C/A	snv		0.16	12
rs1799732	DRD2 ; LOC105369501	0.790	0.160	11	113475529	intron variant	-/G	delins			11
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2161961	GNAL			18	11774501	intron variant	A/G	snv		0.31	3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306