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
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs1064794254	UPF3B	0.851	0.120	X	119841185	frameshift variant	CT/-	delins			6
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1085308052	PTEN	0.851	0.160	10	87952144	frameshift variant	-/T	delins			5
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins			7
rs1085308055	PTEN	0.882	0.120	10	87952240	frameshift variant	TCAGT/-	delins			4
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1553544133	SATB2	0.851	0.200	2	199308845	frameshift variant	TC/-	delins			6
rs1554776954	STXBP1	1.000		9	127661133	frameshift variant	A/-	delins			5
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1085308041	PTEN	0.763	0.160	10	87965285	splice acceptor variant	A/C;G	snv			12
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8