DisGeNET - a database of gene-disease associations

List of shared variants

Delayed speech and language development, C0454644

Disease: Large head (disorder)

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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
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
rs1057518644	HGSNAT	0.925	0.120	8	43192413	stop gained	C/T	snv			10
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv			8
rs1555928716	RPS6KA3	0.925		X	20167669	stop gained	G/A	snv			7
rs1085308051	PTEN	0.882	0.200	10	87933229	missense variant	A/G	snv	4.0E-06		6
rs878853164	KMT5B	1.000	0.160	11	68157849	stop gained	C/A	snv	4.0E-06		5