DisGeNET - a database of gene-disease associations

List of shared variants

Motor delay, C1854301

Disease: Delayed speech and language development

Source: ALL

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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
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1060503383	SYNGAP1	0.882	0.200	6	33441318	stop gained	C/T	snv			14
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs386834055	VPS13B	0.925	0.320	8	99853469	frameshift variant	-/A	delins			9
rs774843232	PGAP2	0.851	0.080	11	3825024	missense variant	G/A;C;T	snv	8.0E-06; 3.6E-05; 1.2E-05		9
rs1555928716	RPS6KA3	0.925		X	20167669	stop gained	G/A	snv			7
rs876661151	LOC105369668 ; GRIN2B	0.925	0.040	12	13608611	missense variant	C/A;T	snv			6
rs1555740394	PRR12	0.882	0.120	19	49595234	frameshift variant	-/ACCACCC	delins			5
rs1554121671	SYNGAP1	1.000		6	33440746	frameshift variant	-/AGGA	delins			4
rs1555247805	MED13L	0.925	0.160	12	116008442	frameshift variant	A/-	del			4