DisGeNET - a database of gene-disease associations

List of shared variants

Large head (disorder), C2243051

Disease: Global developmental delay

Source: CLINVAR ×

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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
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins			7
rs1555928716	RPS6KA3	0.925		X	20167669	stop gained	G/A	snv			7
rs587776935	AKT3	0.827	0.120	1	243505296	missense variant	G/A	snv			7
rs1064794254	UPF3B	0.851	0.120	X	119841185	frameshift variant	CT/-	delins			6
rs1085308040	PTEN	0.851	0.200	10	87961096	missense variant	G/A;T	snv			6
rs1085308047	PTEN ; KLLN	0.827	0.160	10	87864509	missense variant	A/G	snv			6
rs1553544133	SATB2	0.851	0.200	2	199308845	frameshift variant	TC/-	delins			6
rs786202918	PTEN	0.925	0.080	10	87957951	stop gained	C/T	snv	4.0E-06		6
rs1085308044	PTEN ; KLLN	0.882	0.120	10	87864504	missense variant	A/C	snv			5
rs1085308052	PTEN	0.851	0.160	10	87952144	frameshift variant	-/T	delins			5
rs1085308053	PTEN	0.882	0.080	10	87952230	missense variant	C/T	snv			5
rs1554776954	STXBP1	1.000		9	127661133	frameshift variant	A/-	delins			5
rs1564365418	GRIN1	0.882	0.120	9	137163846	missense variant	G/T	snv			5
rs1085308042	PTEN	0.882	0.120	10	87894076	missense variant	G/A	snv			4
rs1085308055	PTEN	0.882	0.120	10	87952240	frameshift variant	TCAGT/-	delins			4
rs786204875	PTEN	0.882	0.120	10	87960913	stop gained	G/A;T	snv			4
rs1085308049	PTEN	0.925	0.080	10	87957885	stop gained	A/T	snv			3