DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Epilepsy

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs869312966	SCN8A	0.827	0.120	12	51806345	missense variant	G/T	snv			7
rs879255652	SCN8A	0.807	0.120	12	51790425	stop gained	G/A;T	snv			7
rs200533370	SYN1	0.882	0.160	X	47574285	missense variant	T/C	snv	1.1E-03	1.4E-02	3
rs587777164	KCNH5	0.882	0.080	14	62950522	missense variant	C/T	snv			3
rs2235076	GRIK2	0.925	0.080	6	102068385	missense variant	G/A	snv	1.8E-02	1.7E-02	2