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
rs1060499738	ACTL6B	1.000		7	100647014	missense variant	C/T	snv		7.0E-06	2
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs1060499739	CEP97	1.000		3	101757754	missense variant	A/G	snv			2
rs879255580	CLCN4			X	10206437	missense variant	T/G	snv			1
rs879255581	CLCN4			X	10206464	missense variant	T/C	snv			1
rs879255585	CLCN4			X	10206756	missense variant	G/A	snv			1
rs879255590	CLCN4			X	10208595	splice region variant	G/A	snv			1
rs879255582	CLCN4			X	10213705	missense variant	C/T	snv			1
rs587777161	CLCN4	1.000		X	10213734	missense variant	G/A;C	snv			2
rs879255583	CLCN4			X	10213768	missense variant	C/T	snv			1
rs879255586	CLCN4			X	10213979	frameshift variant	-/A	delins			1
rs879255584	CLCN4			X	10220837	missense variant	C/T	snv			1
rs1060499740	CINP			14	102348559	stop lost	A/C	snv			3
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs606231450	BRF1	0.882	0.160	14	105226674	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		7
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs606231416	BRF1	0.882	0.160	14	105241282	missense variant	G/A	snv	8.1E-06		7
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs1555408401	PACS2	1.000		14	105368112	missense variant	G/A	snv			2
rs1554823375	WDR37	0.851	0.160	10	1080454	missense variant	C/T	snv			8
rs561330579	CELSR2	1.000		1	109258951	missense variant	C/G;T	snv	7.3E-05		2
rs1562159088	WASF1	1.000	0.040	6	110100644	stop gained	G/A	snv			2
rs1562159562	WASF1			6	110101594	stop gained	G/A	snv			1
rs1562159599	WASF1			6	110101628	frameshift variant	G/CCTGGC	delins			1