DisGeNET - a database of gene-disease associations

List of associated variants

Schizophrenia, Childhood, C0036346

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs781821239	B3GNT6	1.000	0.040	11	77040103	missense variant	C/G;T	snv	4.4E-06		1
rs863223346	FREM2	1.000	0.040	13	38876091	missense variant	G/A	snv			1
rs863223348	GALNT4 ; POC1B-GALNT4 ; POC1B	1.000	0.040	12	89523356	synonymous variant	G/A	snv	8.0E-06		1
rs776061422	GPR153	1.000	0.040	1	6254689	missense variant	G/A;T	snv	2.0E-05; 4.0E-06		1
rs863223350	GTF2IRD1	1.000	0.040	7	74521264	missense variant	C/A;T	snv	4.0E-06		1
rs863223352	HGS ; ARL16	1.000	0.040	17	81683794	missense variant	C/A	snv			1
rs745452577	HSPG2	1.000	0.040	1	21865798	synonymous variant	G/A	snv	3.2E-05	2.1E-05	1
rs863223349	ITGA6	1.000	0.040	2	172504158	inframe deletion	AGA/-	delins			1
rs863223353	MEST	1.000	0.040	7	130499898	missense variant	C/T	snv	4.0E-06		1
rs145171629	NLRP12	1.000	0.040	19	53810801	synonymous variant	G/A;C	snv	3.6E-05; 4.0E-06		1
rs748809996	PDZRN3	1.000	0.040	3	73602452	missense variant	C/T	snv	2.2E-05	9.6E-06	1
rs61734270	PTGIS	1.000	0.040	20	49524089	missense variant	C/T	snv	9.8E-04	9.6E-04	1
rs863223356	RELA ; RELA-DT	1.000	0.040	11	65661693	missense variant	A/G	snv			1
rs863223354	RYR2	1.000	0.040	1	237500743	stop gained	C/T	snv			1
rs863223355	RYR2	1.000	0.040	1	237500745	missense variant	A/C	snv			1
rs863223347	SEZ6 ; LOC105371716 ; PIPOX	1.000	0.040	17	28981409	inframe deletion	AGTGGTGGT/-	delins			1
rs863223351	STAC2	1.000	0.040	17	39218007	missense variant	C/T	snv			1
rs759748655	TTBK1	1.000	0.040	6	43255768	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		1