DisGeNET - a database of gene-disease associations

List of associated variants

Autism Spectrum Disorders, C1510586

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
rs2241694	CAMK2A	1.000	0.040	5	150223045	missense variant	A/G	snv	0.92	0.94	1
rs526126	FADS2	1.000	0.040	11	61857413	intron variant	G/C;T	snv	0.81; 8.0E-06		3
rs2056202	SLC25A12	0.882	0.040	2	171855970	intron variant	T/C	snv	0.81	0.77	4
rs10951154	HOTAIRM1 ; HOXA1	0.925	0.040	7	27095695	missense variant	C/A;G;T	snv	0.76		2
rs25925	CAMK4	0.925	0.040	5	111484055	synonymous variant	G/C	snv	0.75	0.83	2
rs1390938	SLC18A1	0.807	0.200	8	20179202	missense variant	A/G	snv	0.71	0.78	7
rs1060826	NOS2	0.851	0.160	17	27762841	synonymous variant	T/C	snv	0.66	0.67	4
rs6323	MAOA	0.807	0.040	X	43731789	synonymous variant	G/T	snv	0.65		7
rs465899	APC	0.882	0.160	5	112841474	synonymous variant	G/A	snv	0.65	0.60	3
rs20556	LAMB1	1.000	0.040	7	107953544	missense variant	T/C	snv	0.65	0.66	1
rs1800692	TNFRSF1A	0.925	0.120	12	6333180	missense variant	A/G	snv	0.64	0.71	5
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2158836	LAMB1	1.000	0.040	7	107940394	non coding transcript exon variant	A/G	snv	0.63	0.64	1
rs251684	PLA2G4C	1.000	0.040	19	48098197	synonymous variant	T/C	snv	0.61	0.64	2
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs3735653	EN2	0.925	0.040	7	155458738	missense variant	C/G;T	snv	0.54		2
rs1049346	GLO1	0.882	0.080	6	38703061	5 prime UTR variant	G/A	snv	0.50	0.54	3
rs35678	ATP2B2	0.925	0.040	3	10338239	missense variant	C/T	snv	0.49	0.47	2
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs241509	ATP2B2	1.000	0.040	3	10345375	intron variant	C/A;T	snv	0.45		1
rs561077	GPR50	0.882	0.080	X	151181177	missense variant	A/G	snv	0.43	0.45	4
rs9616915	SHANK3	1.000	0.040	22	50679152	missense variant	T/C	snv	0.43	0.46	2
rs1799836	MAOB	0.790	0.160	X	43768752	intron variant	T/A;C	snv	0.43		7