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
rs869312686	HCFC1	0.882	0.120	X	153952053	missense variant	G/C;T	snv			5
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs1414334	HTR2C	0.851	0.160	X	114903581	intron variant	C/G	snv			5
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5
rs727504031	NDP ; NDP-AS1	0.925	0.200	X	43949981	missense variant	G/A	snv			3
rs1569485503	NLGN3	1.000	0.040	X	71167697	missense variant	C/T	snv			2
rs1553368900	NRXN1	1.000	0.040	2	50925810	splice acceptor variant	CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-	del			1
rs372392424	PIGG	0.882	0.240	4	523849	missense variant	C/T	snv	6.7E-05	7.7E-05	8
rs863225094	PPP2R1A	0.827	0.160	19	52213076	missense variant	G/A	snv			10
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		14
rs786204858	PTEN	0.776	0.280	10	87933079	missense variant	A/G;T	snv			11
rs1085308046	PTEN	0.790	0.240	10	87933160	missense variant	T/C;G	snv			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
rs1554893835	PTEN	0.827	0.240	10	87894110	splice donor variant	G/C;T	snv			8
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins			7
rs1085308048	PTEN	0.851	0.320	10	87933175	stop gained	T/G	snv			6
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