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
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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs1057518011	TMEM240			1	1535766	missense variant	C/T	snv			4
rs121908153	NLRP3	0.882	0.080	1	247424356	missense variant	G/A;C	snv			4
rs202064075	CLCNKB			1	16048352	missense variant	G/A	snv	1.5E-04	7.7E-05	1
rs121912678	ACVR1	0.851	0.080	2	157774114	missense variant	C/G;T	snv			8
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs121918626	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.080	2	166012179	missense variant	T/G	snv			3
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs1170695	SLC6A1 ; SLC6A1-AS1	1.000	0.040	3	11013652	5 prime UTR variant	A/G	snv		0.35	2
rs2944366	SLC6A1 ; SLC6A1-AS1	1.000	0.040	3	11011556	intron variant	T/C	snv		0.25	2
rs9990174	SLC6A1	1.000	0.040	3	10998753	intron variant	G/T	snv		0.31	2
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs10938397		0.851	0.200	4	45180510	intergenic variant	A/G	snv		0.37	19
rs27072	SLC6A3	0.807	0.120	5	1394407	3 prime UTR variant	C/A;T	snv			11
rs28363170	SLC6A3	0.827	0.120	5	1393745	3 prime UTR variant	-/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC	delins		8.1E-06	7
rs3836790	SLC6A3	0.882	0.080	5	1411740	intron variant	-/ACATACACACTCAGACACACATACCATGCA	ins			5