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
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs364897	GBA	0.807	0.120	1	155238215	missense variant	T/C	snv	7.2E-05	1.0E-04	6
rs1317187144	GBA	0.851	0.120	1	155239889	missense variant	T/C	snv	4.0E-06		4
rs535896234	GBA	0.882	0.120	1	155237399	missense variant	T/C	snv	1.8E-04	3.5E-05	3
rs1247325511	CHIT1	0.925	0.120	1	203217007	missense variant	T/C	snv	4.0E-06	7.0E-06	2
rs773409311	GBA	0.925	0.120	1	155238186	missense variant	T/C	snv	8.0E-06	7.0E-06	2
rs80357113	BRCA1	0.925	0.200	17	43094281	missense variant	T/C	snv			2
rs1327336561	GBA	1.000	0.120	1	155235089	missense variant	T/C	snv		8.5E-06	1
rs200048001	MTX1	1.000	0.120	1	155213256	missense variant	T/C	snv	1.9E-02	1.7E-02	1
rs755973971	HEXA	0.882	0.120	15	72346661	missense variant	T/A;C;G	snv	7.6E-05; 1.6E-05		3
rs755903502	SCARB2	0.882	0.120	4	76161738	stop gained	T/A;C	snv	4.0E-05; 4.0E-06		3
rs77369218	GBA	0.807	0.160	1	155235726	missense variant	T/A	snv			7
rs747409352	GBA	0.925	0.120	1	155238625	synonymous variant	T/A	snv	1.2E-04	2.8E-05	2
rs79796061	GBA	0.925	0.120	1	155238608	missense variant	T/A	snv	8.0E-06	2.8E-05	2
rs121908313	GBA	0.925	0.120	1	155237470	missense variant	G/T	snv			2
rs121908295	GBA	0.925	0.120	1	155235708	missense variant	G/C	snv			2
rs80356771	GBA	0.776	0.160	1	155235196	missense variant	G/A;T	snv	7.2E-05; 4.0E-06		8
rs187070546	GBA3	1.000	0.120	4	22747325	missense variant	G/A;T	snv	9.0E-03; 4.0E-06		1
rs76725886	GBA	0.925	0.120	1	155237531	missense variant	G/A;C	snv	4.0E-06		2
rs747284798	GBA	1.000	0.120	1	155235769	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs356219	LOC105377329 ; SNCA	0.776	0.240	4	89716450	intron variant	G/A	snv		0.54	9
rs398123532	GBA	0.827	0.120	1	155238270	missense variant	G/A	snv	1.3E-05		5
rs439898	GBA	0.882	0.120	1	155238630	missense variant	G/A	snv		2.8E-05	3