DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPSY, PROGRESSIVE MYOCLONIC 3, C2673257

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
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs368001837	KCTD7	0.851	0.080	7	66638895	missense variant	C/T	snv	1.6E-05	1.4E-05	6
rs387907246	KCTD7	0.925	0.040	7	66638912	missense variant	C/T	snv	2.0E-05	7.0E-06	2
rs387907261	KCTD7	0.925	0.040	7	66639180	missense variant	A/G;T	snv			2
rs1554397834	KCTD7	1.000	0.040	7	66633445	splice donor variant	G/A	snv			1
rs267607199	KCTD7	1.000	0.040	7	66633425	stop gained	C/A;T	snv	8.0E-06; 4.0E-06		1
rs387907262	KCTD7	1.000	0.040	7	66638281	missense variant	G/T	snv			1
rs387907263	KCTD7	1.000	0.040	7	66638260	missense variant	C/A	snv			1
rs727502785	KCTD7	1.000	0.040	7	66638954	frameshift variant	C/-	delins			1
rs774026720	KCTD7	1.000	0.040	7	66638273	missense variant	G/A	snv	4.0E-06	7.0E-06	1