DisGeNET - a database of gene-disease associations

List of associated variants

NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS, C4479569

Source: ALL

Results per page

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
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs587777057	GNAO1	0.827	0.040	16	56336744	missense variant	G/A	snv			8
rs886041715	GNAO1 ; DKFZP434H168 ; LOC283856	0.827	0.040	16	56192353	missense variant	G/A;C;T	snv			7
rs1064794533	GNAO1	0.882	0.080	16	56336846	missense variant	G/A	snv			4
rs797044878	GNAO1	0.882		16	56336763	missense variant	G/A;T	snv			3
rs797044951	GNAO1	1.000		16	56351396	missense variant	G/A	snv			3
rs797045599	GNAO1	0.882	0.040	16	56336817	missense variant	C/T	snv			3
rs886039494	GNAO1	0.925		16	56336762	missense variant	C/G;T	snv			3
rs886041766	LOC283856 ; DKFZP434H168 ; GNAO1	0.925	0.040	16	56192574	missense variant	G/A;T	snv			2
rs1114167431	GNAO1	1.000		16	56351397	missense variant	A/G	snv			1