DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Familial (FPAH)

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
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
rs1333040	CDKN2B-AS1	0.732	0.280	9	22083405	intron variant	C/G;T	snv			15
rs63751210	PSEN1	0.882	0.080	14	73186878	missense variant	C/T	snv			5