DisGeNET - a database of gene-disease associations

List of associated variants

Poor school performance, C1843367

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
rs558269137	FLG ; FLG-AS1	0.851	0.160	1	152312601	frameshift variant	ACTG/-	delins		1.3E-02	8
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs534542684	KIAA0586	0.827	0.240	14	58432439	frameshift variant	G/-	del	3.1E-03	3.4E-03	6
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs199722402	INO80	0.925	0.120	15	40987186	missense variant	C/T	snv	3.1E-04	8.4E-04	3
rs137939966	MYOCD			17	12752540	missense variant	A/G	snv	1.6E-04	8.4E-04	2
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs144900171	SYT1	0.925		12	79448968	missense variant	C/G;T	snv	1.3E-04	6.2E-04	5
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs188675529	CENPT ; THAP11	0.827	0.240	16	67842794	missense variant	C/G;T	snv	1.6E-03	6.0E-04	11
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs875989807	EP300 ; EP300-AS1	0.925	0.120	22	41178278	inframe deletion	CAGCAGCAACAG/-	delins		2.4E-04	3
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs199422173	ASPM	0.827	0.120	1	197101468	frameshift variant	CT/-	delins	2.3E-04	1.7E-04	7
rs372292910	PCDHB4	1.000	0.040	5	141122905	frameshift variant	A/-;AA	delins		1.7E-04	3
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs767982852	RUBCN	0.882	0.080	3	197694417	missense variant	T/C	snv	8.0E-06	4.9E-05	6
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs730882226	INO80	0.925	0.120	15	41071953	missense variant	A/G	snv	1.6E-05	4.2E-05	3
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs397509418	TRAPPC11			4	183684059	splice region variant	G/A	snv	5.6E-05	4.2E-05	1