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
rs878853161	SLC2A1	0.851	0.240	1	42929977	frameshift variant	AT/-	del			7
rs1565532385	UBE4A	0.925	0.080	11	118374964	frameshift variant	CA/-	del			3
rs1555910143	SHANK3	0.925	0.120	22	50721257	frameshift variant	CT/-	del			2
rs1567533189	TSC2	0.925	0.160	16	2086283	frameshift variant	AAGGACTGCCA/-	del			2
rs1565527302	SHANK2	1.000	0.040	11	70485988	frameshift variant	TG/-	del			1
rs762292772	SHANK3	0.882	0.160	22	50721505	frameshift variant	G/-;GG	delins			4
rs34808376		0.925	0.040	7	155456016	intron variant	-/GC	delins			2
rs6150410		0.925	0.040	7	155454910	intron variant	CGCATCCCC/-;CGCATCCCCCGCATCCCC	delins		0.28	2
rs1564801388	PTEN ; KLLN	1.000	0.040	10	87864353	5 prime UTR variant	-/G	delins			1
rs1564801473	KLLN ; PTEN	1.000	0.040	10	87864406	5 prime UTR variant	-/C	delins			1
rs1569305431	IQSEC2	1.000	0.040	X	53254702	frameshift variant	G/-	delins			1
rs724159978	RNF135	1.000	0.040	17	30998906	frameshift variant	G/-	delins			1
rs762735676	NF1	1.000	0.040	17	31221945	frameshift variant	TTT/-;TTTT	delins	6.6E-05		1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99