DisGeNET - a database of gene-disease associations

Source: BEFREE

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		9
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		7
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
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
rs28935485	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398534	missense variant	G/C	snv			2
rs28935195	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101401713	missense variant	C/T	snv			2
rs104894848	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407710	missense variant	C/G	snv			1
rs869312265	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407903	start lost	T/C	snv			1
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv			1
rs868949479	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101400693	stop gained	C/T	snv			1
rs869312141	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403908	missense variant	A/G;T	snv			1
rs869312142	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403843	missense variant	A/G;T	snv			1
rs869312214	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398078	stop gained	C/A;T	snv			1
rs869312346	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101400694	stop gained	C/T	snv			1
rs869312386	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398878	missense variant	C/A;G	snv			1
rs886044845	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401755	missense variant	A/G	snv			1
rs104894831	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407786	missense variant	G/A	snv			1
rs797044613	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407780	missense variant	T/C;G	snv		9.4E-06	1
rs869312304	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407860	missense variant	G/A;T	snv		1.9E-05	1
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			1
rs104894834	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403846	missense variant	G/A	snv			1