DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs80338671	GBE1	0.851	0.120	3	81642787	missense variant	T/C;G	snv	4.5E-04; 3.2E-04		5
rs137852886	GBE1	0.925	0.080	3	81648876	missense variant	A/G	snv	4.4E-06	2.1E-05	3
rs137852888	GBE1	0.882	0.120	3	81577973	stop gained	G/A;C	snv	3.7E-05	5.6E-05	3
rs192044702	GBE1	0.882	0.120	3	81648854	splice donor variant	A/G	snv	8.9E-04	7.7E-04	3
rs201958741	GBE1	0.851	0.120	3	81577999	missense variant	C/T	snv	3.3E-05	4.9E-05	3
rs80338673	GBE1	0.882	0.120	3	81577972	missense variant	C/T	snv	1.6E-05		3
rs1057517315	GBE1	0.925	0.080	3	81705469	frameshift variant	T/-	delins			2
rs137852887	GBE1	0.925	0.080	3	81646403	missense variant	A/T	snv		1.4E-05	2
rs137852889	GBE1	1.000	0.080	3	81537080	missense variant	T/C	snv			2
rs137852890	GBE1	0.925	0.120	3	81536940	stop gained	C/A;T	snv			2
rs137852894	GBE1	0.925	0.120	3	81537071	stop gained	C/T	snv	1.1E-05		2
rs397515343	GBE1	1.000	0.080	3	81761374	splice donor variant	C/T	snv			2
rs397515344	GBE1	0.925	0.120	3	81648851	splice region variant	C/G	snv			2
rs766935302	GBE1	0.925	0.080	3	81535220	stop gained	G/A;C	snv	2.8E-05		2
rs80338672	GBE1	0.925	0.080	3	81578000	missense variant	G/A	snv	3.7E-05	7.0E-06	2
rs1555787599	RBCK1	0.925	0.080	20	427395	missense variant	G/T	snv			2
rs1553690406	GBE1	1.000	0.080	3	81670852	stop gained	C/A	snv			1
rs1559637815	GBE1	1.000	0.080	3	81537034	stop gained	G/T	snv			1
rs763016962	GBE1	1.000	0.080	3	81594024	splice acceptor variant	C/A	snv		1.4E-05	1
rs886058900	GBE1	1.000	0.080	3	81577939	missense variant	T/C	snv	4.3E-06	7.0E-06	1