DisGeNET - a database of gene-disease associations

Source: CLINVAR

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
rs869312389	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398867	frameshift variant	TT/-;T	delins	5.4E-06		1
rs1569302697	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398023	inframe deletion	TCCTGCCGGTTTATC/-	delins			1
rs727504773	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398565	splice acceptor variant	TAACTG/AAAGTTGCC	delins			1
rs886044829	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398041	frameshift variant	TA/-	delins			1
rs797044775	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101397942	missense variant	T/G	snv			1
rs869312396	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398837	missense variant	T/G	snv			1
rs797044613	HNRNPH2 ; GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101407780	missense variant	T/C;G	snv		9.4E-06	1
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		2
rs104894830	RPL36A-HNRNPH2 ; GLA	0.925	0.160	X	101398483	missense variant	T/C	snv			1
rs104894835	RPL36A-HNRNPH2 ; GLA ; HNRNPH2	1.000	0.160	X	101407803	missense variant	T/C	snv			1
rs104894852	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101397871	missense variant	T/C	snv			1
rs28935495	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398554	missense variant	T/C	snv			1
rs398123217	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398939	missense variant	T/C	snv			1
rs869312136	RPL36A-HNRNPH2 ; HNRNPH2 ; GLA	1.000	0.160	X	101407806	missense variant	T/C	snv			1
rs869312432	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398543	missense variant	T/C	snv			1
rs28935487	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398789	missense variant	T/A;G	snv			1
rs797044499	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398569	splice acceptor variant	T/A;C	snv			1
rs869312149	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400667	missense variant	T/A;C	snv			1
rs869312160	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101398389	missense variant	T/A;C	snv			1
rs1057516429	GLA ; RPL36A-HNRNPH2	1.000	0.160	X	101403936	stop gained	T/A	snv			1
rs28935486	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398795	missense variant	T/A	snv			1
rs869312139	GLA ; HNRNPH2 ; RPL36A-HNRNPH2	1.000	0.160	X	101407714	missense variant	T/A	snv			1
rs1555987215	GLA ; RPL36A-HNRNPH2 ; HNRNPH2	1.000	0.160	X	101407878	frameshift variant	T/-	del			1
rs104894851	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101398920	stop gained	G/T	snv			1
rs869312134	HNRNPH2 ; RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101407845	missense variant	G/T	snv			1