DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Moderate intellectual disability

Source: CLINVAR ×

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
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv			11
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs281875196	SMARCA2	0.851	0.320	9	2115927	missense variant	G/A;C	snv			9
rs886041097	NAA15	0.882	0.160	4	139386152	stop gained	C/G	snv			9
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			7
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6