DisGeNET - a database of gene-disease associations

List of associated variants

Anxiety, C0003467

Source: CLINVAR ×

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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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs80338903	USH2A	0.701	0.360	1	216247095	frameshift variant	C/-	del	7.6E-04	5.4E-04	25
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs587776667	PTEN	0.742	0.280	10	87931090	splice donor variant	G/A;C;T	snv			14
rs1563452941	SLC20A2	0.882	0.120	8	42437137	stop gained	C/A	snv			13
rs786204858	PTEN	0.776	0.280	10	87933079	missense variant	A/G;T	snv			11
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05		9
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv			8
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv			8
rs755246809	AHI1	0.827	0.280	6	135404951	frameshift variant	T/-	delins	5.9E-04	4.9E-05	7
rs387906653	SLC20A2	0.882	0.120	8	42428829	stop gained	C/A;T	snv			7
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		5
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			5
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			4
rs1057518806	HMBS	1.000	0.040	11	119093155	frameshift variant	G/-	del			4
rs63750264	APP	0.716	0.360	21	25891784	missense variant	C/A;G;T	snv			2