DisGeNET - a database of gene-disease associations

List of associated variants

Delayed speech and language development, C0454644

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
rs132630297	PHF6	0.925	0.280	X	134425256	stop gained	C/A;T	snv			6
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv			11
rs876661151	LOC105369668 ; GRIN2B	0.925	0.040	12	13608611	missense variant	C/A;T	snv			6
rs879255531	EHMT1	0.882	0.400	9	137728379	stop gained	C/T	snv			5
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs886041097	NAA15	0.882	0.160	4	139386152	stop gained	C/G	snv			9
rs587783000	PURA	0.925	0.080	5	140114444	inframe deletion	TCG/-	del			5
rs587782999	PURA	0.882	0.080	5	140114446	missense variant	G/A;C	snv			6
rs587782994	PURA	0.882	0.080	5	140114470	missense variant	A/G	snv			6
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs587782992	PURA	0.882	0.080	5	140114483	frameshift variant	TC/-;TCTC	delins			5
rs587782996	PURA	0.925	0.080	5	140114544	stop gained	C/G;T	snv	9.0E-06		5
rs587782998	PURA	0.882	0.080	5	140114651	missense variant	T/A	snv			5
rs587782993	PURA	0.882	0.080	5	140114737	stop gained	C/T	snv			6
rs587783001	PURA	0.882	0.080	5	140114777	missense variant	G/C	snv			6
rs587782997	PURA	0.925	0.080	5	140114964	stop gained	C/G	snv			5
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins			6
rs758865880	KYNU	0.807	0.280	2	142956235	stop gained	T/A	snv	7.2E-05	4.9E-05	8
rs770642379	KYNU	0.807	0.280	2	143040430	frameshift variant	TTTAAGC/-	delins	3.2E-05	2.8E-05	8
rs1554642022	PUF60 ; SCRIB	0.851	0.200	8	143816981	stop gained	G/A	snv			8
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs1057518950	TPO	0.851	0.280	2	1484815	missense variant	C/T	snv			7