DisGeNET - a database of gene-disease associations

List of associated variants

Autistic Disorder, C0004352

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
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs4570625	TPH2	0.724	0.200	12	71938143	upstream gene variant	G/T	snv		0.27	25
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs2254298	CAV3 ; OXTR	0.701	0.200	3	8760542	intron variant	G/A	snv		0.16	23
rs6314	HTR2A	0.677	0.360	13	46834899	missense variant	G/A	snv	7.9E-02	9.5E-02	23
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs4746	GLO1	0.708	0.400	6	38682852	missense variant	T/A;G	snv	0.36		21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06		21
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
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv			21
rs4291	ACE	0.724	0.400	17	63476833	upstream gene variant	T/A;C	snv			20
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15