DisGeNET - a database of gene-disease associations

List of shared variants

Epileptic encephalopathy, C0543888

Disease: Seizures

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
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs1555889127	KCNB1 ; LOC105372649	1.000	0.040	20	49374625	missense variant	C/T	snv			6
rs1555889162	KCNB1 ; LOC105372649	0.882	0.040	20	49374931	missense variant	G/A;C	snv			6
rs1135401733	HNRNPU	1.000	0.040	1	244856757	stop gained	G/A	snv			3
rs764618040	LOC105378936 ; PHGDH	1.000	0.040	1	119726868	missense variant	C/T	snv	1.6E-05	2.1E-05	2
rs886041874	PHGDH	1.000	0.040	1	119721323	splice donor variant	T/C	snv	4.0E-06		2