DisGeNET - a database of gene-disease associations

List of shared variants

Sleep disturbances, C0037317

Disease: Delayed speech and language development

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
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1562171209	PHIP	0.851	0.160	6	79003821	missense variant	T/C	snv			9
rs773685207	MED13	0.851	0.200	17	61966645	stop gained	G/A;C;T	snv	4.3E-06; 4.3E-05		6