DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Poor school performance ×

Variants associated to the Gene: ASPM ×

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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
rs199422173	ASPM	0.827	0.120	1	197101468	frameshift variant	CT/-	delins	2.3E-04	1.7E-04	7
rs1064795945	ASPM	1.000	0.120	1	197102332	frameshift variant	AAGT/-	delins			5
rs199422151	ASPM	0.882	0.120	1	197125190	stop gained	G/A;T	snv	4.0E-06; 1.6E-05		4
rs199422152	ASPM	0.882	0.120	1	197125161	stop gained	C/T	snv			4