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 EXOME	AF GENOME	Num. diseases
rs104894848	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407710	missense variant	C/G	snv			1
rs869312135	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407842	missense variant	A/G	snv			1
rs869312139	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407714	missense variant	T/A	snv			1
rs869312254	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407760	missense variant	C/G	snv			1
rs869312448	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407812	missense variant	G/A	snv			1
rs104894837	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401743	missense variant	G/A	snv			1
rs104894840	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398906	missense variant	C/G;T	snv			1
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		1
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv			1
rs104894852	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101397871	missense variant	T/C	snv			1
rs1555985829	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401736	missense variant	C/A;T	snv			1
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		1
rs28935485	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398534	missense variant	G/C	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
rs397515873	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398862	missense variant	T/A;C	snv			1
rs397515874	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398857	missense variant	C/G;T	snv	5.5E-06		1
rs727503950	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101400712	missense variant	A/G	snv	1.1E-05	1.9E-05	1
rs727504348	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101397982	missense variant	C/T	snv			1
rs730880439	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398408	missense variant	G/C	snv			1
rs730880451	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398785	missense variant	C/T	snv			1
rs782598150	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398021	missense variant	C/A;G	snv	5.5E-06		1
rs797044746	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398882	missense variant	G/C	snv			1