DisGeNET - a database of gene-disease associations

List of associated variants

Gaucher Disease, C0017205

Source: ALL

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	18
rs1064651	GBA	0.732	0.360	1	155235727	missense variant	C/G	snv	1.3E-04	2.0E-04	13
rs75822236	GBA	0.752	0.200	1	155235002	missense variant	C/T	snv	1.8E-04	6.1E-05	10
rs80356772	GBA	0.790	0.160	1	155235195	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs356219	LOC105377329 ; SNCA	0.776	0.240	4	89716450	intron variant	G/A	snv		0.54	9
rs104886460	GBA	0.776	0.160	1	155240629	splice donor variant	C/A;T	snv	7.6E-05		8
rs387906315	GBA	0.790	0.160	1	155240660	frameshift variant	-/C	delins	5.2E-05	5.6E-05	8
rs78973108	GBA	0.776	0.160	1	155237453	missense variant	C/T	snv	2.8E-05	4.2E-05	8
rs80356769	GBA	0.776	0.160	1	155235772	missense variant	C/A	snv	3.2E-05	7.0E-06	8
rs80356771	GBA	0.776	0.160	1	155235196	missense variant	G/A;T	snv	7.2E-05; 4.0E-06		8
rs77369218	GBA	0.807	0.160	1	155235726	missense variant	T/A	snv			7
rs1064644	GBA	0.807	0.120	1	155238192	missense variant	A/G	snv	8.0E-06		6
rs364897	GBA	0.807	0.120	1	155238215	missense variant	T/C	snv	7.2E-05	1.0E-04	6
rs121908311	GBA	0.827	0.120	1	155235823	missense variant	C/T	snv	1.6E-05	7.0E-06	5
rs398123527	GBA	0.827	0.120	1	155236298	missense variant	C/G	snv			5
rs398123532	GBA	0.827	0.120	1	155238270	missense variant	G/A	snv	1.3E-05		5
rs409652	GBA	0.827	0.120	1	155238174	missense variant	C/T	snv	3.2E-05	2.1E-05	5
rs1317187144	GBA	0.851	0.120	1	155239889	missense variant	T/C	snv	4.0E-06		4
rs1450426641	GBA	0.851	0.160	1	155235820	missense variant	A/C	snv	4.0E-06		4