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
rs1800561	CD38	0.807	0.240	4	15824935	missense variant	C/A;T	snv	8.0E-06; 4.4E-04		7
rs6449182	CD38	0.807	0.160	4	15778830	intron variant	C/G	snv		0.22	6
rs6449197	CD38	0.882	0.120	4	15813299	intron variant	C/T	snv		0.23	3
rs6565113	CDH13	0.925	0.040	16	83074041	intron variant	G/C;T	snv			3
rs2078178	CLEC7A ; LOC105369655	1.000	0.040	12	10123963	intron variant	A/G	snv		0.55	1
rs762079123	CLN8	1.000	0.040	8	1771125	missense variant	G/A	snv	2.0E-05		1
rs1331320684	CNTN4	1.000	0.040	3	2988415	missense variant	T/C	snv	4.0E-06		1
rs2710102	CNTNAP2	0.790	0.120	7	147877298	intron variant	A/G;T	snv			12
rs7794745	CNTNAP2	0.851	0.040	7	146792514	intron variant	A/T	snv		0.49	6
rs121908445	CNTNAP2	0.925	0.040	7	148147542	missense variant	T/C	snv	3.3E-04	1.7E-04	2
rs369867547	CNTNAP2	1.000	0.040	7	147903657	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs1396313317	CNTNAP2 ; LOC107986721	1.000	0.040	7	147562137	splice acceptor variant	G/A;C	snv	4.0E-06		1
rs2237659	COG5	1.000	0.040	7	107207047	intron variant	T/G	snv		0.19	1
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs4818	COMT ; MIR4761	0.683	0.440	22	19963684	synonymous variant	C/G;T	snv	0.34		27
rs6269	COMT ; MIR4761	0.827	0.240	22	19962429	5 prime UTR variant	A/G	snv		0.38	10
rs769224	COMT ; MIR4761	1.000	0.040	22	19964281	synonymous variant	G/A	snv	3.0E-02	4.4E-02	1
rs750585901	CX3CR1	0.925	0.040	3	39266347	missense variant	C/T	snv	8.0E-06		2
rs7170637	CYFIP1	0.925	0.040	15	22903836	missense variant	C/T	snv	0.18	0.30	2
rs2279357	CYP11A1	0.851	0.160	15	74338282	intron variant	T/C	snv		0.69	5
rs4541	CYP11B1 ; GML	1.000	0.040	8	142875277	missense variant	G/A;T	snv	7.8E-02; 2.0E-05		2
rs769402060	CYP1B1-AS1 ; CYP1B1	0.925	0.120	2	38075022	missense variant	A/G	snv	3.3E-05	4.2E-05	3
rs4646536	CYP27B1	0.724	0.440	12	57764205	intron variant	A/G	snv	0.38	0.32	14
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs769236847	CZ1P-ASNS ; ASNS	0.807	0.200	7	97869011	missense variant	C/T	snv	4.0E-06	3.5E-05	8