DisGeNET - a database of gene-disease associations

List of shared variants

Tay-Sachs Disease, C0039373

Disease: Cherry red spot of the macula

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
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs121907966	HEXA	0.882	0.160	15	72345477	missense variant	G/A	snv	4.0E-06	1.4E-05	9
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1057519465	HEXA	0.925	0.160	15	72346598	stop gained	C/T	snv	4.0E-06		7
rs1057519466	HEXA	0.925	0.160	15	72346307	frameshift variant	G/-	del			7
rs121907978	HEXA	0.925	0.160	15	72346296	missense variant	C/G;T	snv			7
rs773446161	HEXA	0.925	0.160	15	72356555	stop gained	G/A	snv	4.0E-06		7
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
rs786204585	HEXA	0.925	0.160	15	72344139	stop gained	G/A	snv		7.0E-06	6
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5
rs370266293	HEXA	0.925	0.160	15	72346679	missense variant	C/G;T	snv	1.0E-04		5
rs748190164	HEXA	0.925	0.160	15	72356531	missense variant	C/G;T	snv	4.0E-06		4
rs762374961	HEXA	0.925	0.160	15	72346235	stop gained	C/A;T	snv			4