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
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs757511770	FMN2	0.807	0.280	1	240092656	missense variant	A/C;G;T	snv	8.0E-06; 4.0E-06		9
rs558269137	FLG ; FLG-AS1	0.851	0.160	1	152312601	frameshift variant	ACTG/-	delins		1.3E-02	8
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs794726827	SCN1A ; SCN1A-AS1	0.827	0.120	2	166054637	splice donor variant	C/A;G;T	snv			6
rs1057521223	SCN2A	1.000	0.040	2	165373339	stop gained	G/A;T	snv			5
rs768407867	CHRNA1	0.925	0.160	2	174748177	missense variant	C/T	snv	4.4E-05	3.5E-05	3
rs1057518658	SCN2A	1.000	0.040	2	165331409	frameshift variant	AC/-	del			1
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			11
rs1559619762	FOXP1	1.000	0.040	3	70977827	splice donor variant	C/G	snv			2
rs1057518999	FOXP1	1.000	0.040	3	70977826	splice donor variant	A/G	snv			1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	25
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1562171209	PHIP	0.851	0.160	6	79003821	missense variant	T/C	snv			9
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32