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	AF GENOME	Num. diseases
rs1567368243	SIN3A	0.882	0.040	15	75411651	frameshift variant	-/T	delins			9
rs1554943158	DEAF1	0.882	0.040	11	681045	inframe deletion	CTT/-	delins			6
rs1560092224	ZBTB20	0.925	0.040	3	114339276	missense variant	T/A	snv			5
rs1555103646	GRIN2B	1.000	0.040	12	13569964	missense variant	C/A	snv			4
rs1553510301	TBR1	0.925	0.040	2	161417794	missense variant	T/C	snv			3
rs1057518850	FMR1	1.000	0.040	X	147928320	splice acceptor variant	A/G	snv			2
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
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
rs1553510680	TBR1	1.000	0.040	2	161420241	frameshift variant	-/G	delins			2
rs1553511175	TBR1	1.000	0.040	2	161423547	frameshift variant	ACG/CA	delins			2
rs1553511216	TBR1	1.000	0.040	2	161423815	frameshift variant	-/GCCCGCAGTC	delins			2
rs1553511226	TBR1	1.000	0.040	2	161423830	frameshift variant	GC/-	delins			2
rs1569485503	NLGN3	1.000	0.040	X	71167697	missense variant	C/T	snv			2
rs762713626	TBR1	1.000	0.040	2	161420222	missense variant	C/G;T	snv	4.0E-06	7.0E-06	2
rs1553368900	NRXN1	1.000	0.040	2	50925810	splice acceptor variant	CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-	del			1
rs773080572	CNTN6	1.000	0.040	3	1295712	stop gained	C/A	snv			1
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs1569110700	TCF20	0.925	0.080	22	42179633	missense variant	G/A	snv			5
rs1085308044	PTEN ; KLLN	0.882	0.120	10	87864504	missense variant	A/C	snv			5
rs1564365418	GRIN1	0.882	0.120	9	137163846	missense variant	G/T	snv			5
rs869312686	HCFC1	0.882	0.120	X	153952053	missense variant	G/C;T	snv			5
rs1085308042	PTEN	0.882	0.120	10	87894076	missense variant	G/A	snv			4