DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: GNG3 ×

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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
rs879253928	BSCL2 ; GNG3 ; HNRNPUL2-BSCL2	0.882	0.080	11	62705433	missense variant	A/G	snv			3
rs786205068	BSCL2 ; GNG3 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705320	frameshift variant	GG/TCC	delins			1
rs1057517657	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705371	missense variant	G/A	snv	4.0E-06		1
rs1057517658	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705357	frameshift variant	-/AA	delins	4.0E-06		1
rs1057517659	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705320	frameshift variant	G/TCC	delins			1
rs749865861	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.040	11	62705535	missense variant	G/A	snv	4.0E-06		1
rs1565152616	GNG3 ; HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62705300	splice donor variant	C/A	snv			1
rs557044760	HNRNPUL2-BSCL2 ; GNG3 ; BSCL2	1.000	0.120	11	62705303	stop gained	G/A;C	snv	4.1E-06	7.0E-06	1