DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Fabry Disease ×

Variants associated to the Gene: GLA ×

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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 GENOME	Num. diseases
rs28935485	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398534	missense variant	G/C	snv		3
rs398123226	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398403	missense variant	G/C;T	snv		3
rs104894830	RPL36A-HNRNPH2 ; GLA	0.925	0.160	X	101398483	missense variant	T/C	snv		2
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv		2
rs104894847	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	0.925	0.160	X	101407846	missense variant	C/G	snv		2
rs28935195	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101401713	missense variant	C/T	snv		2
rs397515870	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400692	missense variant	G/C;T	snv		2
rs727504348	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101397982	missense variant	C/T	snv		2
rs104894827	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398033	missense variant	G/A	snv		1
rs104894829	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	1.000	0.160	X	101407773	stop gained	C/T	snv		1
rs104894831	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407786	missense variant	G/A	snv		1
rs104894832	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398387	missense variant	C/G;T	snv		1
rs104894834	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403846	missense variant	G/A	snv		1
rs104894835	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	1.000	0.160	X	101407803	missense variant	T/C	snv		1
rs104894836	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407738	missense variant	A/C	snv		1
rs104894837	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401743	missense variant	G/A	snv		1
rs104894838	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400699	missense variant	A/C	snv		1
rs104894839	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398508	stop gained	C/A;T	snv		1
rs104894840	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398906	missense variant	C/G;T	snv		1
rs104894841	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398907	stop gained	G/A	snv	9.5E-06	1
rs104894842	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398079	stop gained	C/T	snv		1
rs104894843	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398075	stop gained	G/A;C	snv		1
rs104894848	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407710	missense variant	C/G	snv		1
rs1057516429	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403936	stop gained	T/A	snv		1
rs1057519609	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101397950	inframe deletion	AAG/-	delins		1