DisGeNET - a database of gene-disease associations

List of associated variants

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT, C3280282

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
rs869312865	GRIN1 ; LOC105376328	0.827	0.160	9	137156676	missense variant	G/A;C	snv			5
rs1554770667	GRIN1	0.882		9	137163845	missense variant	C/T	snv			4
rs797045047	GRIN1	1.000		9	137162510	missense variant	G/A;C	snv			3
rs878853143	GRIN1	0.925	0.200	9	137162209	missense variant	C/G;T	snv			2
rs1060500046	GRIN1	1.000		9	137162649	missense variant	G/A	snv			1
rs1554770054	GRIN1	1.000		9	137162195	missense variant	C/A;G	snv			1
rs1554770064	GRIN1	1.000		9	137162216	inframe insertion	-/GCA	delins			1
rs1554770185	GRIN1	1.000		9	137162502	inframe insertion	-/CATCGG	delins			1
rs1554770262	GRIN1	1.000		9	137162687	missense variant	T/G	snv			1
rs1554770444	GRIN1	1.000		9	137163228	missense variant	G/A	snv			1
rs1554770589	GRIN1	1.000		9	137163642	missense variant	C/A	snv			1
rs1554770624	GRIN1	1.000		9	137163764	missense variant	T/C	snv			1
rs1564363665	GRIN1	1.000		9	137162499	missense variant	A/G	snv			1
rs387906635	GRIN1	1.000		9	137162710	missense variant	G/A	snv			1
rs781053477	GRIN1	1.000		9	137163606	missense variant	G/A;T	snv			1
rs797044925	GRIN1	1.000		9	137163668	missense variant	G/A	snv			1