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
rs4291	ACE	0.724	0.400	17	63476833	upstream gene variant	T/A;C	snv			20
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
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
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06		21
rs1568019012	LAMA1	0.790	0.360	18	6985616	stop gained	G/A	snv			13
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs61886492	FOLH1	0.763	0.360	11	49164722	missense variant	G/A	snv	3.7E-02	4.0E-02	12
rs4516035	VDR	0.776	0.360	12	47906043	non coding transcript exon variant	T/C	snv		0.31	10
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
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
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	12
rs1169089134	FOLH1	0.790	0.320	11	49206785	missense variant	C/G;T	snv			9
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs757511770	FMN2	0.807	0.280	1	240092656	missense variant	A/C;G;T	snv	8.0E-06; 4.0E-06		9
rs73598374	ADA	0.790	0.280	20	44651586	missense variant	C/A;G;T	snv	7.1E-06; 6.2E-02		8
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins			7
rs81002885	BRCA2	0.827	0.280	13	32316529	splice donor variant	T/A;C;G	snv	4.0E-06		6
rs167771	DRD3	0.827	0.280	3	114157428	intron variant	G/A;T	snv			5