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	Num. diseases
rs869312139	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407714	missense variant	T/A	snv		1
rs869312140	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403924	missense variant	A/G	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
rs869312148	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101400695	missense variant	A/G	snv		1
rs869312150	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398945	missense variant	G/A	snv		1
rs869312151	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398929	missense variant	G/C	snv		1
rs869312153	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398825	missense variant	A/G	snv		1
rs869312154	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398802	missense variant	A/G	snv		1
rs869312155	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398443	missense variant	G/A	snv		1
rs869312156	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398426	missense variant	C/T	snv		1
rs869312157	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398422	missense variant	A/G	snv		1
rs869312160	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398389	missense variant	T/A;C	snv		1
rs869312161	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398380	missense variant	T/C	snv		1
rs869312163	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398032	missense variant	C/G;T	snv	1.1E-05	1
rs869312214	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398078	stop gained	C/A;T	snv		1
rs869312254	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407760	missense variant	C/G	snv		1
rs869312311	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401693	missense variant	C/G	snv		1
rs869312318	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101401664	missense variant	C/T	snv		1
rs869312344	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101400700	missense variant	C/G;T	snv	5.5E-06	1
rs869312381	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398919	missense variant	A/C;G	snv		1
rs869312383	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398915	missense variant	T/C	snv		1
rs869312386	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398878	missense variant	C/A;G	snv		1
rs869312393	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398847	missense variant	A/G	snv		1
rs869312437	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398506	missense variant	G/T	snv		1