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
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs869312693	DYNC1H1	0.925	0.080	14	102034135	missense variant	C/T	snv			3
rs869312672	SMC3	0.925	0.200	10	110577847	missense variant	G/A	snv			3
rs878855328	MTOR	0.882	0.120	1	11117039	missense variant	C/T	snv			4
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs1555247805	MED13L	0.925	0.160	12	116008442	frameshift variant	A/-	del			4
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10
rs267606706	CBL	0.807	0.240	11	119278181	missense variant	T/A;C	snv	8.0E-06		9
rs534517447	GRIK4 ; LOC101929208	0.925	0.160	11	120956935	missense variant	G/A	snv	2.9E-05	7.0E-06	4
rs869312699	GRIK4	0.925	0.160	11	120986102	protein altering variant	CTGGCGCAGGAGGCC/GCT	delins			4
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			10
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64