DisGeNET - a database of gene-disease associations

List of associated variants

Autistic behavior, C0856975

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	Num. diseases
rs1057518850	FMR1	1.000	0.040	X	147928320	splice acceptor variant	A/G	snv		2
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv		46
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv		9
rs1057524237	COL11A1	0.851	0.280	1	102915626	splice region variant	C/T	snv		7
rs1085308042	PTEN	0.882	0.120	10	87894076	missense variant	G/A	snv		4
rs1085308044	PTEN ; KLLN	0.882	0.120	10	87864504	missense variant	A/C	snv		5
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv		8
rs1085308046	PTEN	0.790	0.240	10	87933160	missense variant	T/C;G	snv		9
rs1085308047	PTEN ; KLLN	0.827	0.160	10	87864509	missense variant	A/G	snv		6
rs1085308048	PTEN	0.851	0.320	10	87933175	stop gained	T/G	snv		6
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins		7
rs1085308051	PTEN	0.882	0.200	10	87933229	missense variant	A/G	snv	4.0E-06	6
rs1085308052	PTEN	0.851	0.160	10	87952144	frameshift variant	-/T	delins		5
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins		7
rs1085308055	PTEN	0.882	0.120	10	87952240	frameshift variant	TCAGT/-	delins		4
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv		8
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06	14
rs1414334	HTR2C	0.851	0.160	X	114903581	intron variant	C/G	snv		5
rs1553368900	NRXN1	1.000	0.040	2	50925810	splice acceptor variant	CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-	del		1
rs1553510171	TBR1	1.000	0.040	2	161416881	frameshift variant	C/-	del		2
rs1553510217	TBR1	1.000	0.040	2	161417083	missense variant	A/T	snv		2
rs1553510280	TBR1	1.000	0.040	2	161417690	frameshift variant	GTTTTAA/-	delins		2
rs1553510301	TBR1	0.925	0.040	2	161417794	missense variant	T/C	snv		3
rs1553510313	TBR1	1.000	0.040	2	161417827	stop gained	C/T	snv		2
rs1553510385	TBR1	1.000	0.040	2	161418249	stop gained	G/A	snv		2