DisGeNET - a database of gene-disease associations

List of associated variants

Mild Mental Retardation, C0026106

Source: CURATED ×

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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
rs1565091862	KCNMA1-AS1 ; KCNMA1	0.925	0.160	10	76944829	missense variant	T/C	snv			4
rs770499406	ERCC8	0.882	0.280	5	60898350	missense variant	C/T	snv	4.0E-06	7.0E-06	4
rs777323132	CAPN3	0.882	0.240	15	42399616	missense variant	C/T	snv	4.0E-06; 2.4E-05	7.0E-06	4
rs121917929	SCN1A-AS1 ; SCN1A	0.925	0.160	2	166046970	missense variant	G/A;T	snv			3
rs1556955128	HUWE1	0.882	0.240	X	53573795	missense variant	A/C	snv			3
rs1569149539	TCF20	0.925	0.160	22	42212712	stop gained	G/C	snv			3
rs762864856	LOC112267935 ; GLRA1	0.925	0.200	5	151856384	splice acceptor variant	C/G;T	snv	8.0E-06		3
rs104894700	KCNC3	0.925	0.200	19	50323609	missense variant	G/C;T	snv			1
rs760378316	KPNA7	1.000	0.160	7	99203201	stop gained	G/A	snv	3.2E-05	6.3E-05	1
rs794729664	PTEN	0.925	0.240	10	87952170	stop gained	T/A;C;G	snv			1
rs797044872	KCNC3	0.882	0.200	19	50323685	missense variant	C/T	snv			1
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs875989777	CTSA	0.851	0.320	20	45894704	frameshift variant	AT/-	delins			9
rs797045140	IQSEC2	0.827	0.200	X	53238308	splice region variant	TG/-	delins			6
rs1569151204	TCF20	0.925	0.160	22	42213495	frameshift variant	CA/-	delins			2
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24