DisGeNET - a database of gene-disease associations

List of associated variants

FOCAL CORTICAL DYSPLASIA OF TAYLOR, C1846385

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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1057519914	MTOR	0.851	0.240	1	11157174	missense variant	A/G	snv			5
rs1057519950	RHEB	0.827	0.200	7	151490963	missense variant	T/A;C	snv			5
rs28934872	TSC2	0.851	0.200	16	2070571	missense variant	G/A	snv			5
rs45469298	TSC2	0.851	0.200	16	2070570	missense variant	C/G;T	snv			5
rs45517412	PKD1 ; TSC2	0.882	0.200	16	2088293	missense variant	C/G;T	snv			4
rs118203542	TSC1	0.851	0.200	9	132906053	stop gained	G/A	snv			4
rs118203631	TSC1	0.851	0.200	9	132903785	stop gained	G/A	snv			4
rs45517395	TSC2	0.882	0.200	16	2088117	missense variant	G/A;C	snv	4.0E-06		4
rs118203427	TSC1	0.882	0.200	9	132921418	stop gained	G/A	snv			3
rs1564488264	TSC1	0.882	0.200	9	132911110	frameshift variant	T/-	del			3
rs1131691965	TSC2	0.882	0.200	16	2074394	splice region variant	G/C	snv			3
rs1567387207	TSC2	0.882	0.200	16	2050487	splice donor variant	G/A	snv			3
rs1567437155	TSC2	0.882	0.200	16	2064286	frameshift variant	C/-	del			3
rs45517179	TSC2	0.882	0.200	16	2064341	stop gained	C/G;T	snv			3
rs45517222	TSC2	0.882	0.200	16	2072879	stop gained	C/T	snv			3
rs1057519779	MTOR	0.925	0.200	1	11157242	missense variant	A/G	snv			2
rs1038322721	AKT1	1.000	0.080	14	104775774	missense variant	T/C	snv		7.0E-06	1
rs1085307113	MTOR	1.000	0.080	1	11114338	missense variant	A/G;T	snv			1
rs1085307114	MTOR	1.000	0.080	1	11157255	missense variant	A/C	snv			1
rs587777895	MTOR	1.000	0.080	1	11139308	missense variant	C/T	snv	8.2E-06	2.1E-05	1
rs913197212	MTOR	1.000	0.080	1	11238533	missense variant	C/T	snv	2.8E-05	1.4E-05	1
rs1229729609	PIK3CD	1.000	0.080	1	9715706	missense variant	G/A	snv	8.0E-06		1
rs1060505021	TSC1	1.000	0.080	9	132921872	missense variant	G/A	snv			1