DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Poor school performance ×

Variants associated to the Gene: CAMK2A ×

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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
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs1554121875	CAMK2A	0.882	0.040	5	150250281	missense variant	T/C	snv			7
rs1554123982	CAMK2A	0.925	0.040	5	150273157	splice acceptor variant	C/-	delins			7
rs113331868	CAMK2A			5	150228191	splice donor variant	C/A;T	snv			6
rs1554122129	CAMK2A	0.882	0.040	5	150252032	missense variant	T/A	snv			6
rs1554122123	CAMK2A	0.925	0.040	5	150251979	splice donor variant	-/A	delins			5