DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Seizures

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
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv		0.36	27
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv			21
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			13
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	12
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs757511770	FMN2	0.807	0.280	1	240092656	missense variant	A/C;G;T	snv	8.0E-06; 4.0E-06		9
rs558269137	FLG ; FLG-AS1	0.851	0.160	1	152312601	frameshift variant	ACTG/-	delins		1.3E-02	8
rs1566446604	CHD8	0.882	0.080	14	21431511	frameshift variant	GAGAGCTTGGCAGTCCA/-	delins			6