DisGeNET - a database of gene-disease associations

List of associated variants

Microcephaly, Primary Autosomal Recessive, 5, C1837501

Source: ALL

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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
rs587783211	ASPM	0.925	0.120	1	197086966	stop gained	G/A	snv	2.0E-05	3.5E-05	3
rs137852994	ASPM	0.925	0.120	1	197093168	stop gained	G/A	snv	1.6E-05	1.5E-04	2
rs137852995	ASPM	0.925	0.120	1	197117876	stop gained	C/T	snv	4.0E-06		2
rs137852996	ASPM	0.925	0.120	1	197144049	stop gained	G/A	snv	2.0E-05		2
rs137852997	ASPM	0.925	0.120	1	197103062	stop gained	A/C;G	snv			2
rs140602858	ASPM	0.925	0.120	1	197121974	stop gained	G/A;T	snv	1.6E-05		2
rs145489194	ASPM	0.925	0.120	1	197133380	stop gained	G/A;C	snv	1.2E-05; 1.6E-05		2
rs1557966012	ASPM	1.000	0.120	1	197143564	frameshift variant	C/-	del			2
rs189678019	ASPM	0.925	0.120	1	197101490	stop gained	A/C;G	snv	2.4E-05		2
rs199422134	ASPM	0.925	0.120	1	197143675	stop gained	G/A;C;T	snv	4.0E-06; 1.6E-04		2
rs199422135	ASPM	0.925	0.120	1	197143532	frameshift variant	AG/-	delins	4.0E-06		2
rs199422137	ASPM	0.925	0.120	1	197143097	frameshift variant	CT/-	delins			2
rs199422139	ASPM	0.925	0.120	1	197142986	frameshift variant	CTTGAGA/-	delins			2
rs199422147	ASPM	0.925	0.120	1	197139831	frameshift variant	GTTT/-	delins		7.0E-06	2
rs199422159	ASPM	0.925	0.120	1	197122190	stop gained	G/C	snv			2
rs199422163	ASPM	0.925	0.120	1	197105055	frameshift variant	-/T	delins	4.0E-06		2
rs199422165	ASPM	0.925	0.120	1	197104456	stop gained	G/A	snv	4.0E-06		2
rs199422184	ASPM	0.925	0.120	1	197093187	frameshift variant	T/-	delins			2
rs199422189	ASPM	0.925	0.120	1	197090929	stop gained	G/C	snv	4.0E-06		2
rs199422194	ASPM	0.925	0.120	1	197090328	stop gained	G/A	snv	8.0E-06		2
rs199422195	ASPM	0.925	0.120	1	197090295	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs745997770	ASPM	0.925	0.120	1	197102323	stop gained	G/A	snv	4.0E-06		2
rs765275884	ASPM	0.925	0.120	1	197143279	frameshift variant	AT/-	delins			2