DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Autistic behavior

Source: INFERRED ×

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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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs1554944271	DEAF1	0.851	0.240	11	686925	missense variant	C/G	snv			14
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs786204858	PTEN	0.776	0.280	10	87933079	missense variant	A/G;T	snv			11
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs1085308046	PTEN	0.790	0.240	10	87933160	missense variant	T/C;G	snv			9
rs1567368243	SIN3A	0.882	0.040	15	75411651	frameshift variant	-/T	delins			9
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv			8
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv			8
rs1085308051	PTEN	0.882	0.200	10	87933229	missense variant	A/G	snv	4.0E-06		6
rs1085308044	PTEN ; KLLN	0.882	0.120	10	87864504	missense variant	A/C	snv			5
rs1085308048	PTEN	0.851	0.320	10	87933175	stop gained	T/G	snv			4
rs1555103646	GRIN2B	1.000	0.040	12	13569964	missense variant	C/A	snv			4
rs1057518850	FMR1	1.000	0.040	X	147928320	splice acceptor variant	A/G	snv			2
rs1569485503	NLGN3	1.000	0.040	X	71167697	missense variant	C/T	snv			2