DisGeNET - a database of gene-disease associations

List of associated variants

Autistic Disorder, C0004352

Source: CURATED ×

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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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
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
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs1064793345	PTEN	0.752	0.240	10	87961039	missense variant	T/C	snv			10
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1625579	MIR137HG	0.763	0.160	1	98037378	intron variant	G/T	snv		0.78	5
rs2000813	LIPG	0.763	0.200	18	49567494	missense variant	C/A;T	snv	4.0E-06; 0.27; 4.0E-06	0.23	1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			11
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			11
rs11191454	LOC107984265 ; BORCS7-ASMT ; AS3MT	0.776	0.160	10	102900247	intron variant	A/G	snv		7.9E-02	5
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1568019012	LAMA1	0.790	0.360	18	6985616	stop gained	G/A	snv			13
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
rs2710102	CNTNAP2	0.790	0.120	7	147877298	intron variant	A/G;T	snv			1
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10