DisGeNET - a database of gene-disease associations

Source: UNIPROT

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
rs104894838	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400699	missense variant	A/C	snv		1
rs104894840	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398906	missense variant	C/G;T	snv		1
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv		1
rs104894847	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	0.925	0.160	X	101407846	missense variant	C/G	snv		1
rs104894848	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407710	missense variant	C/G	snv		1
rs104894852	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101397871	missense variant	T/C	snv		1
rs1057521047	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407750	missense variant	A/G	snv		1
rs113173389	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403899	missense variant	C/T	snv		1
rs1555984869	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398081	missense variant	A/G	snv		1
rs1555985175	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398916	missense variant	T/C	snv		1
rs1555985829	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401736	missense variant	C/A;T	snv		1
rs28935195	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101401713	missense variant	C/T	snv		1
rs28935196	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101401695	missense variant	A/G	snv		1
rs28935485	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398534	missense variant	G/C	snv		1
rs28935486	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398795	missense variant	T/A	snv		1
rs28935487	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398789	missense variant	T/A;G	snv		1
rs28935488	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398563	missense variant	A/C;G;T	snv		1
rs28935489	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398479	missense variant	G/A;C	snv		1
rs28935491	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398390	stop gained	G/A;T	snv		1
rs28935492	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398386	missense variant	C/G	snv		1
rs28935493	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398074	missense variant	C/T	snv	9.4E-06	1
rs28935494	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398018	missense variant	C/G;T	snv		1
rs28935495	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398554	missense variant	T/C	snv		1
rs397515870	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400692	missense variant	G/C;T	snv		1
rs397515873	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398862	missense variant	T/A;C	snv		1