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
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs753635972	ST20-MTHFS ; MTHFS	0.790	0.120	15	79845388	missense variant	C/T	snv	3.2E-05	2.1E-05	15
rs771379232	MTHFS ; ST20-MTHFS	0.790	0.120	15	79845338	stop gained	G/A	snv	2.0E-05	3.5E-05	15
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs1554944271	DEAF1	0.851	0.240	11	686925	missense variant	C/G	snv			14
rs587776667	PTEN	0.742	0.280	10	87931090	splice donor variant	G/A;C;T	snv			14
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		14
rs778139192	KIF7 ; TICRR	0.776	0.360	15	89629561	stop gained	G/A;T	snv	4.1E-06; 7.3E-05		14
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12