DisGeNET - a database of gene-disease associations

List of shared variants

Intellectual Disability, C3714756

Disease: Drug Resistant 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
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs1364926780	ABCB1	0.882	0.200	7	87550272	missense variant	C/T	snv			5
rs887386390	L2HGDH	0.925	0.120	14	50283990	missense variant	T/C	snv			3
rs145390085	L2HGDH	1.000	0.040	14	50269297	missense variant	A/G	snv			2