DisGeNET - a database of gene-disease associations

List of associated variants

Autistic Disorder, C0004352

Source: CLINVAR ×

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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
rs797046134	ALDH1A3 ; LOC101927751	1.000	0.040	15	100914748	missense variant	T/C	snv			1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs12877501	COL4A2	0.925	0.160	13	110512039	missense variant	G/A;C	snv	5.0E-04		4
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1064794254	UPF3B	0.851	0.120	X	119841185	frameshift variant	CT/-	delins			6
rs796053356	STXBP1	0.882	0.160	9	127663344	missense variant	G/A	snv			4
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs796052571	GRIN2B ; LOC105369668	0.851	0.040	12	13608755	missense variant	C/T	snv			6
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs7794745	CNTNAP2	0.851	0.040	7	146792514	intron variant	A/T	snv		0.49	1
rs2710102	CNTNAP2	0.790	0.120	7	147877298	intron variant	A/G;T	snv			1
rs558269137	FLG ; FLG-AS1	0.851	0.160	1	152312601	frameshift variant	ACTG/-	delins		1.3E-02	8
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1057518658	SCN2A	1.000	0.040	2	165331409	frameshift variant	AC/-	del			1
rs1057521223	SCN2A	1.000	0.040	2	165373339	stop gained	G/A;T	snv			5
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs794726827	SCN1A ; SCN1A-AS1	0.827	0.120	2	166054637	splice donor variant	C/A;G;T	snv			6
rs768407867	CHRNA1	0.925	0.160	2	174748177	missense variant	C/T	snv	4.4E-05	3.5E-05	3