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
rs16835979	STX18-AS1	0.851	0.120	4	4633549	intron variant	C/A	snv		0.20	6
rs6824295	STX18-AS1	0.851	0.120	4	4612553	intron variant	C/T	snv		0.20	6
rs2168351	ST8SIA2	0.851	0.120	15	92440492	intron variant	A/G	snv		0.33	6
rs3784730	ST8SIA2	0.851	0.120	15	92443898	intron variant	A/G	snv		0.44	6
rs749577596	SSTR4	0.925	0.040	20	23035646	missense variant	G/A;T	snv	5.3E-06; 5.3E-06		2
rs1131692040	SNORA70 ; RPL10	0.882	0.160	X	154399844	missense variant	A/G	snv			4
rs1881084	SND1	0.925	0.040	7	127704626	intron variant	G/A	snv		0.33	2
rs3746544	SNAP25 ; SNAP25-AS1	0.790	0.120	20	10306436	3 prime UTR variant	G/T	snv		0.68	10
rs1051312	SNAP25 ; SNAP25-AS1	0.827	0.120	20	10306440	3 prime UTR variant	T/C	snv		0.20	5
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs28364997	SLC6A3	0.807	0.120	5	1403013	missense variant	G/A	snv	5.3E-04	5.8E-04	9
rs577802449	SLC6A3	1.000	0.040	5	1414780	missense variant	G/A	snv	2.4E-05	2.8E-05	1
rs878853161	SLC2A1	0.851	0.240	1	42929977	frameshift variant	AT/-	del			7
rs2056202	SLC25A12	0.882	0.040	2	171855970	intron variant	T/C	snv	0.81	0.77	4
rs2292813	SLC25A12	0.882	0.040	2	171787719	intron variant	T/C	snv		0.81	3
rs301430	SLC1A1 ; SPATA6L	0.827	0.080	9	4576680	synonymous variant	T/C	snv	0.36	0.38	7
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs1023159	SLC19A1	1.000	0.040	21	45546266	intron variant	G/A	snv		0.34	1
rs1390938	SLC18A1	0.807	0.200	8	20179202	missense variant	A/G	snv	0.71	0.78	7
rs2279709	SLC18A1	0.882	0.120	8	20178722	intron variant	T/G	snv		0.51	5
rs2270637	SLC18A1	0.882	0.120	8	20179316	missense variant	C/G	snv	0.20	0.21	3
rs2270641	SLC18A1	0.882	0.120	8	20180955	missense variant	T/C;G	snv	0.32		3
rs762292772	SHANK3	0.882	0.160	22	50721505	frameshift variant	G/-;GG	delins			4
rs1555910143	SHANK3	0.925	0.120	22	50721257	frameshift variant	CT/-	del			2
rs767058690	SHANK3	0.925	0.040	22	50720865	missense variant	G/C;T	snv	1.1E-03		2