DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal behavior, C0233514

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
rs121909671	FUS	0.851	0.120	16	31191419	missense variant	G/A;T	snv	4.0E-06		6
rs267606959	POLG	0.732	0.200	15	89318986	missense variant	G/A	snv	2.0E-05		19
rs945032	BDKRB2	0.882	0.040	14	96204324	upstream gene variant	T/C	snv		0.78	5
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv		0.36	27
rs4570625	TPH2	0.724	0.200	12	71938143	upstream gene variant	G/T	snv		0.27	25
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs669	A2M ; KLRG1	0.851	0.080	12	9079672	missense variant	T/C	snv	0.31	0.33	7
rs112543062	GNPTAB	0.851	0.280	12	101770161	missense variant	T/C;G	snv	1.2E-05		6
rs1224426272	CIT	0.925	0.040	12	119869138	missense variant	C/T	snv			6
rs1060499679	GNPTAB	0.851	0.280	12	101770496	inframe deletion	GTG/-	delins			5
rs1555103646	GRIN2B	1.000	0.040	12	13569964	missense variant	C/A	snv			4
rs121964849	TPI1	1.000	0.120	12	6869741	missense variant	A/G	snv			2
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs6277	DRD2	0.689	0.480	11	113412737	synonymous variant	G/A	snv	0.41	0.38	36
rs746682028	BDNF ; BDNF-AS	0.645	0.480	11	27658414	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		36
rs1801028	DRD2	0.716	0.200	11	113412762	missense variant	G/C	snv	2.7E-02	1.8E-02	24
rs120074125	SMPD1	0.882	0.160	11	6393301	missense variant	T/G	snv	4.0E-06		7
rs10994336	ANK3	0.776	0.160	10	60420054	intron variant	C/T	snv		7.5E-02	12
rs28939688	OPTN	0.807	0.040	10	13109270	missense variant	G/A	snv			7
rs9804190	ANK3	0.882	0.040	10	60080073	intron variant	C/T	snv		0.30	5