DisGeNET - a database of gene-disease associations

List of associated variants

Intellectual Disability, C3714756

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
rs587777570	KIF5C	1.000		2	148947018	missense variant	G/A	snv			4
rs61753016	MECP2	1.000	0.200	X	154030614	missense variant	G/A	snv	6.8E-05	3.9E-05	2
rs267608383	MECP2	1.000	0.200	X	154030643	frameshift variant	TCGGGCTC/-	delins	5.8E-06		2
rs267608402	MECP2	1.000	0.200	X	154030650	missense variant	G/A	snv			2
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv			5
rs61751367	MECP2	0.925	0.080	X	154030939	stop gained	G/A	snv			3
rs61749735	MECP2	0.925	0.200	X	154031162	synonymous variant	G/A;C	snv	5.4E-06; 3.8E-05		3
rs61748420	MECP2	0.851	0.200	X	154031329	missense variant	G/A;T	snv			5
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs61748392	MECP2	0.925	0.200	X	154031418	missense variant	T/C	snv			3
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			9
rs1131692042	RPL10 ; SNORA70	0.925	0.120	X	154399803	missense variant	C/T	snv			3
rs398122917	CLIC2	0.882	0.080	X	155280059	missense variant	G/C	snv	4.4E-05	1.1E-04	5
rs6530893	TUSC3	1.000	0.200	8	15671068	intron variant	T/C	snv		0.14	2
rs6994908	TUSC3	1.000	0.200	8	15674943	intron variant	T/C	snv		0.32	2
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs140646329	KCNJ10			1	160042283	missense variant	C/T	snv	2.0E-05	1.4E-05	2
rs115466046	KCNJ10			1	160042480	missense variant	C/T	snv	1.2E-02	1.1E-02	2
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs747138999	GABRA1	1.000	0.040	5	161895753	missense variant	G/T	snv			2
rs121918822	ASMT			Y	1642868	missense variant	C/T	snv			1
rs199583537	LRP2			2	169170596	missense variant	C/T	snv	2.5E-04	9.8E-05	1
rs878854402	TBL1XR1	0.851	0.280	3	177033050	missense variant	T/C	snv			6
rs35693326	CDKL5 ; RS1			X	18653446	missense variant	G/A;T	snv	8.5E-03; 5.5E-06		1