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	Num. diseases
rs1555987175	GLA ; RPL36A-HNRNPH2 ; HNRNPH2	1.000	0.160	X	101407831	frameshift variant	-/ACGAGGGCCAGGAA	delins	1
rs1555985091	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398799	frameshift variant	-/C	delins	1
rs1569306181	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407818	frameshift variant	-/C	delins	1
rs869312400	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398803	frameshift variant	-/C	delins	1
rs1555985002	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398520	frameshift variant	-/T	delins	1
rs1569302887	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398374	frameshift variant	-/T	delins	1
rs104894836	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407738	missense variant	A/C	snv	1
rs104894838	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400699	missense variant	A/C	snv	1
rs1555985814	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101401703	missense variant	A/C	snv	1
rs1569304190	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401735	missense variant	A/C	snv	1
rs1569304886	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403914	missense variant	A/C	snv	1
rs387906483	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101403809	splice donor variant	A/C	snv	1
rs869312138	GLA ; RPL36A-HNRNPH2 ; HNRNPH2	1.000	0.160	X	101407797	missense variant	A/C	snv	1
rs869312158	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398419	missense variant	A/C	snv	1
rs869312381	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398919	missense variant	A/C;G	snv	1
rs886044860	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398368	splice donor variant	A/C;G	snv	1
rs28935488	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398563	missense variant	A/C;G;T	snv	1
rs1057521047	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407750	missense variant	A/G	snv	1
rs112341092	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101397855	missense variant	A/G	snv	1
rs1555984869	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398081	missense variant	A/G	snv	1
rs1555987232	GLA ; RPL36A-HNRNPH2 ; HNRNPH2	1.000	0.160	X	101407902	start lost	A/G	snv	1
rs28935196	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101401695	missense variant	A/G	snv	1
rs398123201	GLA ; RPL36A-HNRNPH2 ; HNRNPH2	1.000	0.160	X	101407779	missense variant	A/G	snv	1
rs398123223	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398470	missense variant	A/G	snv	1
rs727503072	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401793	missense variant	A/G	snv	1