DisGeNET - a database of gene-disease associations

List of associated variants

Juvenile Myoclonic Epilepsy, C0270853

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
rs543160745	EFHC1	1.000	0.040	6	52424148	missense variant	A/G	snv	4.0E-06; 7.6E-05		1
rs574948354	EFHC1	1.000	0.040	6	52492310	missense variant	A/G	snv	8.0E-05		1
rs745600475	EFHC1	1.000	0.040	6	52438476	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		1
rs764096785	EFHC1	1.000	0.040	6	52438370	missense variant	C/T	snv	1.2E-05	3.5E-05	1
rs767833659	EFHC1	1.000	0.040	6	52465042	missense variant	A/G	snv	4.0E-06		1
rs772265107	EFHC1	1.000	0.040	6	52490165	missense variant	G/A;T	snv	4.8E-05; 4.0E-06		1
rs779322943	EFHC1	1.000	0.040	6	52479211	missense variant	T/C	snv	4.0E-06		1
rs780571007	EFHC1	1.000	0.040	6	52454113	missense variant	A/G	snv	3.2E-05	5.6E-05	1
rs781665913	EFHC1	1.000	0.040	6	52452688	missense variant	G/A	snv	6.4E-05	8.4E-05	1
rs2208592	EFHC2	1.000	0.040	X	44235439	missense variant	G/A;T	snv	0.11		1
rs1799963	F2	0.695	0.400	11	46739505	3 prime UTR variant	G/A	snv		9.6E-03	25
rs121434579	GABRA1	0.925	0.040	5	161895774	missense variant	C/A	snv			2
rs4906902	GABRB3	0.724	0.200	15	26774621	intron variant	A/G	snv		0.15	14
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
rs3743123	GJD2	1.000	0.040	15	34752856	synonymous variant	G/A	snv	0.32	0.31	1
rs2029461	GRM4	1.000	0.040	6	34138013	intron variant	C/T	snv		0.43	1
rs3752158	HCN2	1.000	0.040	19	607984	synonymous variant	G/A;C	snv	1.5E-03; 9.3E-02		1
rs772145901	HCN2	1.000	0.040	19	603647	missense variant	G/A;C	snv	1.6E-05; 8.0E-06		1
rs9349688	LRRC1	1.000	0.040	6	53897294	missense variant	A/G;T	snv	0.12; 5.2E-05		1
rs1376122529	PER2	1.000	0.040	2	238252912	splice region variant	G/A	snv	4.0E-06	7.0E-06	1
rs121918817	SCN1A-AS1 ; SCN1A	0.882	0.040	2	166045080	missense variant	C/T	snv	1.7E-03	1.5E-03	3