DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Poor school performance ×

Variants associated to the Gene: MED13L ×

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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
rs1135401765	MED13L	1.000		12	115982386	stop gained	G/A	snv			2
rs1135401766	MED13L	1.000		12	116005938	frameshift variant	-/A	delins			2
rs1555243059	MED13L	1.000		12	115982406	frameshift variant	AT/-	delins			2
rs1555243582	MED13L	1.000		12	115984259	frameshift variant	A/-	delins			2