DisGeNET - a database of gene-disease associations

Source: BEFREE

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
rs397515871	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.040	X	101407834	missense variant	A/T	snv			1
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		7
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
rs138886989	RPL36A-HNRNPH2 ; GLA	0.925	0.160	X	101401763	missense variant	T/C	snv	1.9E-04	2.8E-05	2
rs104894848	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407710	missense variant	C/G	snv			1
rs869312255	RPL36A-HNRNPH2 ; HNRNPH2 ; GLA	1.000	0.160	X	101407751	missense variant	C/A	snv			1
rs869312304	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407860	missense variant	G/A;T	snv		1.9E-05	1
rs869312214	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398078	stop gained	C/A;T	snv			1
rs730880455	RPL36A-HNRNPH2 ; HNRNPH2 ; GLA	1.000	0.160	X	101407863	missense variant	A/G	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
rs28935494	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398018	missense variant	C/G;T	snv			1
rs797044613	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407780	missense variant	T/C;G	snv		9.4E-06	1
rs869312407	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398790	missense variant	C/T	snv			1
rs104894846	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101398481	missense variant	C/T	snv			1
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			1
rs28935493	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398074	missense variant	C/T	snv		9.4E-06	1
rs727503949	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398928	stop gained	G/A	snv			1
rs886041315	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403906	missense variant	C/A;T	snv			1
rs886044845	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401755	missense variant	A/G	snv			1
rs104894834	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403846	missense variant	G/A	snv			1
rs104894831	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407786	missense variant	G/A	snv			1
rs869312142	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403843	missense variant	A/G;T	snv			1