DisGeNET - a database of gene-disease associations

List of shared variants

Epilepsy, C0014544

Disease: Mental Retardation

Source: ALL

Results per page

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
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			9
rs199516560	ABCB1	0.851	0.200	7	87600772	5 prime UTR variant	G/A	snv		2.1E-05	5
rs1278838206	PCDH19	0.925	0.200	X	100296654	missense variant	C/T	snv	1.1E-05		3