DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Developmental regression

Source: INFERRED ×

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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
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1057519468	HEXA	0.925	0.160	15	72345518	stop gained	C/T	snv	4.0E-06		6
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs1564855725	TPP1	0.882	0.160	11	6617621	splice region variant	C/T	snv			5
rs370266293	HEXA	0.925	0.160	15	72346679	missense variant	C/G;T	snv	1.0E-04		5
rs553522118	TPP1	0.882	0.160	11	6617338	stop gained	G/A;T	snv			5
rs762374961	HEXA	0.925	0.160	15	72346235	stop gained	C/A;T	snv			4