DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: GRIN2B ×

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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	Num. diseases
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06	17
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv		11
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv		11
rs796052571	GRIN2B ; LOC105369668	0.851	0.040	12	13608755	missense variant	C/T	snv		6
rs876661151	LOC105369668 ; GRIN2B	0.925	0.040	12	13608611	missense variant	C/A;T	snv		6
rs1555103646	GRIN2B	1.000	0.040	12	13569964	missense variant	C/A	snv		4
rs1057518988	GRIN2B	0.925	0.040	12	13571859	missense variant	T/C	snv		3
rs876661219	GRIN2B	1.000		12	13571891	missense variant	A/C;G	snv		2
rs1555103971	GRIN2B	1.000		12	13571888	missense variant	C/T	snv		2
rs1057518800	GRIN2B			12	13567228	missense variant	C/T	snv		2
rs869312669	GRIN2B	1.000		12	13571922	missense variant	T/G	snv		2
rs879253931	GRIN2B	0.925		12	13567084	stop gained	G/A	snv		2
rs1565455778	GRIN2B	0.925		12	13567063	frameshift variant	A/-	del		2
rs869312868	GRIN2B	0.925		12	13571910	missense variant	C/T	snv		2
rs398122823	GRIN2B	1.000		12	13866109	frameshift variant	-/G	delins		1
rs398122824	GRIN2B	1.000		12	13570019	splice acceptor variant	T/C	snv		1
rs1060499526	GRIN2B	1.000		12	13753523	frameshift variant	GT/-	delins		1
rs1057519612	GRIN2B	1.000		12	13567265	splice acceptor variant	T/C	snv		1
rs876661055	GRIN2B	1.000		12	13569937	missense variant	A/G	snv		1
rs1057519611	GRIN2B	1.000		12	13865797	splice donor variant	C/T	snv		1
rs387906636	GRIN2B	1.000		12	13571931	missense variant	G/A	snv		1
rs527236034	GRIN2B ; LOC105369668	1.000		12	13616545	missense variant	T/C	snv		1
rs1057518700	GRIN2B ; LOC105369668	1.000		12	13608792	stop gained	C/G;T	snv		1
rs397514555	GRIN2B ; LOC105369668	1.000		12	13615626	missense variant	C/T	snv		1
rs672601378	GRIN2B ; LOC105369668	0.882	0.040	12	13615149	missense variant	C/T	snv		1