DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Autism Spectrum Disorders

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
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
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
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs6311	HTR2A	0.645	0.640	13	46897343	upstream gene variant	C/T	snv		0.40	41
rs2254298	CAV3 ; OXTR	0.701	0.200	3	8760542	intron variant	G/A	snv		0.16	23
rs6314	HTR2A	0.677	0.360	13	46834899	missense variant	G/A	snv	7.9E-02	9.5E-02	23
rs4746	GLO1	0.708	0.400	6	38682852	missense variant	T/A;G	snv	0.36		21
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			13
rs2710102	CNTNAP2	0.790	0.120	7	147877298	intron variant	A/G;T	snv			12
rs121917893	NLGN3	0.807	0.160	X	71167508	missense variant	C/T	snv			10
rs3746544	SNAP25 ; SNAP25-AS1	0.790	0.120	20	10306436	3 prime UTR variant	G/T	snv		0.68	10
rs28364997	SLC6A3	0.807	0.120	5	1403013	missense variant	G/A	snv	5.3E-04	5.8E-04	9
rs779867	GRM7	0.776	0.120	3	7442784	intron variant	T/C;G	snv			9
rs3796863	CD38	0.790	0.160	4	15848363	intron variant	G/T	snv		0.41	8
rs73598374	ADA	0.790	0.280	20	44651586	missense variant	C/A;G;T	snv	7.1E-06; 6.2E-02		8
rs1800561	CD38	0.807	0.240	4	15824935	missense variant	C/A;T	snv	8.0E-06; 4.4E-04		7
rs2268498	CAV3 ; OXTR	0.827	0.080	3	8770725	intron variant	T/C	snv		0.41	7
rs301430	SLC1A1 ; SPATA6L	0.827	0.080	9	4576680	synonymous variant	T/C	snv	0.36	0.38	7
rs10877969	AVPR1A	0.882	0.120	12	63153459	intron variant	T/C	snv		0.26	6