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 EXOME	AF GENOME	Num. diseases
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		10
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		8
rs104894851	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101398920	stop gained	G/T	snv			3
rs104894852	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101397871	missense variant	T/C	snv			3
rs199473684	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101399747	3 prime UTR variant	C/T	snv			3
rs28935485	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398534	missense variant	G/C	snv			3
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			3
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3
rs28935490	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398432	missense variant	C/A;T	snv	3.0E-03; 5.4E-06		3
rs398123226	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398403	missense variant	G/C;T	snv			3
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv			2
rs727504348	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101397982	missense variant	C/T	snv			2
rs104894830	RPL36A-HNRNPH2 ; GLA	0.925	0.160	X	101398483	missense variant	T/C	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
rs104894847	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	0.925	0.160	X	101407846	missense variant	C/G	snv			2
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
rs869312265	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407903	start lost	T/C	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
rs104894839	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398508	stop gained	C/A;T	snv			1